1. Machado-Joseph Disease Fact Sheet In depth look at machado-joseph disease with some resources for further reading.Category Health Conditions and Diseases Machado-Joseph......HISTORY AND EPIDEMMIOLOGY machadojoseph disease was first describedin North America among immigrants from the Portugese Azores. http://glawen.freeyellow.com/joseph3.htm

HISTORY AND EPIDEMMIOLOGY CLINICAL PRESENTATION Machado-Joseph disease is a dominently-inherited disorder with a wide range of clinical expression. In general terms, all patients with MJD have an affected parent. Each of their siblings and children has a %50 chance of developing the disorder, and is considered "at risk". The mean age of onset is 35 in the New England families, but the range(10-64) includes patients with onset into the seventh decade. There appears to be a relation between the clinical ppresentation, the age of onset, and the rate of progression. Progressive incoordination (Ataxia) is the most consistant manifestation. Balance is impaired and stumbling is an early and typical feature. Other associated features include slurred speech (dyarthria) and abnormal eye movements. In some of the affected patients lid retraction produces a characteristic staring expression. Some experience double vision. There is a great deal of variability in other features of the illness. Some patients have a great deal of muscular rigidity, stiffness, and abnormal postures (dystonia). Such individuals are said to have type I MJD. They usually experience onset of symptoms before age 25. For others, the illness begins later in life and is associated with muscle atrophy and sensory loss in the legs, with depressed reflexes. This is known as type III MJD. In the late stages of the illness, many affected patients experience wieght loss and sleep disturbance. The has been complete preservation of intelectulal function in all patiens.

2. MACHADO /JOSEPH'S DISEASE INFORMATION A definition of joseph disease with a look at the symptoms, diagnosis, how it is inherited and research.Category Health Conditions and Diseases Machado-Joseph......MACHADO /JOSEPH'S DISEASE INFORMATION. DOENÇA MACHADOJOSEPH (emPortugues). (I have heard the term 'machado-joseph disease' used. http://www.lusaweb.com/machado.htm

MACHADO /JOSEPH'S DISEASE INFORMATION A Collection of Articles and Links to Joseph's Disease Information Resources. Help us keep this page up to date by submitting new information resources. We are also interested in Portuguese language information about this disease. Please send in sugestions on how to improve this page What is Joseph disease? Joseph disease is a fatal genetic disorder of the nervous system that cripples and paralyzes while leaving the intellect intact. The disease is characterized by weakness in the arms and legs and a general loss of motor control that eventually confines the paitent to a wheelchair. symptoms appear when a defective gene causes a breakdown and loss of cells in a specific areas of the brain known as the striatum, the cerebellum, and the substantia nigra, but what sets this process in motion is still unknown. There is as yet no effective treatment. Joseph disease , first documented in the 1970's, is named for Antone Joseph, a Portuguese sailor with the defective gene who came to California in 1845. The disease occurs primarily in people of Portuguese ancestry, but it has also been found in other ethnic groups, nationalities, and races. What are its symptoms?

3. Machado-Joseph Disease Fact Sheet Developed by the National Institute of Neurological Disorders and Stroke (NINDS). http://www.ninds.nih.gov/health_and_medical/pubs/machado-joseph.htm

National Institute of Neurological Disorders and Stroke Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system Browse all disorders Browse all health organizations More about a disorder Studies with patients Research literature Press releases Search NINDS... (help) Contact us My privacy NINDS is part of the National Institutes of Health Machado-Joseph Disease Fact Sheet Get Web page suited for printing Email this to a friend or colleague Request free mailed brochure Table of Contents What is Machado-Joseph Disease? What are the different types of Machado-Joseph Disease? What causes Machado-Joseph Disease? How is Machado-Joseph Disease diagnosed? ... Where can I get more information? What is Machado-Joseph Disease? Machado-Joseph disease (MJD)-also called spinocerebellar ataxia type 3-is a rare hereditary ataxia. (Ataxia is a general term meaning lack of muscle control.) The disease is characterized by clumsiness and weakness in the arms and legs, spasticity, a staggering lurching gait easily mistaken for drunkenness, difficulty with speech and swallowing, involuntary eye movements, double vision, and frequent urination. Some patients have dystonia (sustained muscle contractions that cause twisting of the body and limbs, repetitive movements, abnormal postures, and/or rigidity) or symptoms similar to those of Parkinson's disease. Others have twitching of the face or tongue, or peculiar bulging eyes. The severity of the disease is related to the age of onset, with earlier onset associated with a more severe form of the disease. Symptoms can begin any time between early adolescence and about 70 years of age. MJD is also a progressive disease, meaning that symptoms get worse with time. Life expectancy ranges from the mid-thirties for those with severe forms of MJD to a normal life expectancy for those with mild forms. For those who die early from the disease, the cause of death is often aspiration pneumonia.

4. International Joseph Disease Foundation Offers education, medical referrals, updates, and support to all individuals interested in machado-joseph disease. http://www.ijdf.net

What's MJD? MJD Research Founding of IJDF IJDF Memorials ... E-Mail Us var go_mem="ijdf"; Get a GoStats hit counter International Joseph Disease Foundation Welcome to the IJDF Web Site. International Joseph Diseases Foundation (IJDF) is a non-profit charitable corporation formed in 1977. Our mission is to locate individuals and families, worldwide, who may be afflicted with Machado Joseph-Disease (MJD). We offer education, medical referrals, up-dates, and support to all interested individuals. To receive our free newsletter and information on Machado Joseph Disease, contact us at: International Joseph Diseases Foundation P.O. Box 994268 Redding, CA 96099 Phone Number: (530) 246-4722 E-Mail: MJD@ijdf.net This page designed and maintained by Gail Pryatel. Please send feedback to gpryatel@yahoo.com Started 02/03, Last modified on 3/13/03.

5. MACHADO-JOSEPH DISEASE In depth look at this machado-joseph disease, starting with a definition, epidemiology, pathogenesis, Category Health Conditions and Diseases Machado-Joseph...... machadojoseph disease. DEFINITION Huntington Disease - CAG. Kennedy's Disease- CAG. Spinocerebellar Ataxia-I - CAG. machado-joseph disease - CAG. http://www.icondata.com/health/pedbase/files/MACHADO-.HTM

Pediatric Database (PEDBASE) Discipline: CNS Last Updated: 1/02/95 MACHADO-JOSEPH DISEASE DEFINITION: A progressive spinocerebellar degenerative disorder characterized by cerebellar dysfunction, pyramidal signs, and ophthalmoplegia. EPIDEMIOLOGY: incidence: over 1000 cases reported age of onset: 3rd to 4th decade risk factors: familial - autosomal dominant chrom.#: 14q32.1 gene: ? Azores Islands (incidence 1/3,900) or of Azorean extraction (1/6,000) PATHOGENESIS: 1. Background Machado-Joseph Disease (MJD) belongs to an expanding family of disorders where the genetic mutation involves unstable trinucleotide repeats (C_G): Disorder - Trinucleotide Repeats Fragile X Syndrome - CGG Myotonic Dystrophy - CTG Huntington Disease - CAG Kennedy's Disease - CAG Spinocerebellar Ataxia-I - CAG Machado-Joseph Disease - CAG in this family of disorders, the number of repeats tends to increase with succeeding generations ("genetic anticipation") in Machado-Joseph Disease: an unstable part of the gene was identified in the coding region characterized by numerous repeats of single trinucleotide sequences containing the bases cytosine, adenine, and quanine (CAG) (Kawaguchi et al., Nature Genetics 8:221 [1994])

6. NINDS Machado-Joseph Disease Information Page More about machadojoseph disease, Studies with patients, Research literature, Pressreleases, NINDS machado-joseph disease Information Page Reviewed 11-30-2001 http://www.ninds.nih.gov/health_and_medical/disorders/machado-joseph.htm

National Institute of Neurological Disorders and Stroke Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system Browse all disorders Browse all health organizations More about Machado-Joseph Disease Studies with patients Research literature Press releases Search NINDS... (help) Contact us My privacy NINDS is part of the National Institutes of Health NINDS Machado-Joseph Disease Information Page Reviewed 11-30-2001 Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Machado-Joseph Disease? Is there any treatment? What is the prognosis? What research is being done? ... Related NINDS Publications and Information What is Machado-Joseph Disease? Is there any treatment? MJD is incurable, but some symptoms of the disease can be treated. For those patients who show parkinsonian features, levodopa therapy can help for many years. Treatment with antispasmodic drugs, such as baclofen, can help reduce spasticity. Physiotherapy can help patients cope with disability associated with gait problems, and physical aids, such as walkers and wheelchairs, can assist the patient with everyday activities. Other problems, such as sleep disturbances, cramps, and urinary dysfunction, can be treated with medications and medical care. What is the prognosis?

7. Machado-Joseph Disease Wide development on the great concern that afects presently thousands of people in the world machadojoseph disease http://webhome.idirect.com/~albri

Welcome to Benvindos a Machado-Joseph Disease English Portuguese LE FastCounter

8. Doença Machado-Joseph November 10, 2000 Questions or Comments Please Email Webmaster Copyright © 2000 Albri Software Designer. All rights reserved. machado-joseph disease. Last update November 10, 2000 http://webhome.idirect.com/~albri/indexeng.htm

MACHADO-JOSEPH DISEASE Last update: November 10, 2000 Questions or Comments Please E-mail: Webmaster

9. Machado-Joseph Disease: Getting Help Information about machadojoseph disease, genetic counselling, access to medical care and improving life quality. http://www.uac.pt/paginas/gain/doenca_i.html

Machado-Joseph Disease: Getting Help The disease Genetic Counselling Acess to Medical Care Improving Life-Quality The disease Machado-Joseph disease (MJD) is an hereditary degenerative neurological disorder. The first symptoms usually appear at adult age, with an average age at onset of 40 years of age. MJD usually starts with gait ataxia, followed by speech becoming slurred and finally striking the finest hand movements. The second type of most common clinical signs refer to ocular alterations which include a limitation of eye movement. Other signs may be associated with the above, and are the cause of the clinical variability of this disease. MJD is transmitted in an autossomic dominant fashion, which means, on one hand, that both man and women can be affected and can transmit the disease and that, on the other hand, a single copy of the mutant gene is enough for the clinical signs of the disease to be manifested. Given the nature of this disorder, the probability for a child of a patient to be a carrier of the gene is of 50 %. In the Azores the prevalence of MJD is particularly high (1 in 2402 individuals are affected).

10. NCBI - Machado-Joseph Disease Nat'l Ctr for Biotechnology Info offers an extensive report on the history and effects of machadojoseph disease. Lists reference books. http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?109150

11. Central Nervous System Diseases machadojoseph disease About machado-joseph disease - OMIM, NCBI(US); Machado/Joseph's Disease Information; machado-joseph disease http://www.mic.ki.se/Diseases/c10.228.html

search help staff Central Nervous System Diseases Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Nerve Cells Lodish et al. ] - Molecular Cell Biol., Chap 21, via NLM (US) Pathol. Images of the Central Nervous System - Univ of Utah (US) The Human Brain JD MacArthur The Global Brainstem '97 , the Cerebellum '97 , the Thalamus '97 , the Spinal Cord '97 - Univ. of Wisconsin (US) Mental Disorders Links CENTRAL NERVOUS SYSTEM INFECTIONS Infectious Diseases of the Central Nervous System - The Virtual Hospital, Iowa (US) Arachnoiditis Arachnoiditis mini fact sheet - NINDS (US) Arachnoiditis.net Arachnoiditis Sufferers Action and Monitoring Society New Zealand, Inc. Arachnoiditis Discussions - NeuroWebForum, MGH (US) The UK Arachnoiditis Trust About Adhesive Arachnoiditis , and Classification of Arachnoiditis - The Burton Report Poliomyelitis The Polio Connection of America Poliomyelitis , and the Global Polio Eradication Initiative - WHO (CH) About Polio Vaccines - Sabin Vaccine Institute About the Polio Vaccine and Simian Virus 40 TJ Moriarty ] - Chronic Illnet Postpoliomyelitis Syndrome Post Polio Home Page About the Post-polio Syndrome Lincolnshire Post-Polio Network , and its Library Catalogue T Dempsey ] - (UK) K-H Jeschke ; in German] The Polio Experience Network Post Polio Syndrome Central - S:t Johns Tips about recently published Medical Articles on Post-Polio Syndrome [citations retrieved from Medline]

12. About Machado-Joseph Disease (or SCA-03) machadojoseph disease (or SCA-03). This document is titled The Machado-Josephdisease fact sheet. Written in 1995, this article is fairly up-to-date. http://glawen.freeyellow.com/windex.htm

Machado-Joseph disease (or SCA-03) This document is titled "The Machado-Joseph disease fact sheet. " Written in 1995, this article is fairly up-to-date. Ataxia, Which is the major characteristic of the disease is described Here . The National Ataxia Foundation has a website, which you can check out Here are a couple of strictly informational sites: http://www3.ncbi.nlm.nih,gov:80/htbin-post/Omim/dispmim?109150 http://gdbwww.gdb.org/omim/omimx?109150 There is an organization that is dedicated to research on MJD A couple of points I'd like to make: 1. This disease is hereditary , and can not be CAUGHT Email me about this. This site is hosted for FREE on FreeYellow yours can be, too! Click here for more information.

13. HONselect - Machado-Joseph Disease English machadojoseph disease, - Azorean Disease - Joseph Disease - SpinocerebellarAtaxia Type 3 - Striatonigral Degeneration, Autosomal Dominant - Autosomal http://www.hon.ch/HONselect/RareDiseases/C10.228.140.252.700.700.500.html

List of rare diseases: English Deutsch Language: MeSH term: Accepted terms: English: Machado-Joseph Disease - Azorean Disease - Joseph Disease - Spinocerebellar Ataxia Type 3 - Striatonigral Degeneration, Autosomal Dominant - Autosomal Dominant Striatonigral Degeneration - Azorean Disease (Machado-Joseph) Français: JOSEPH, MALADIE - MALADIE ACORES Deutsch: Machado-Joseph-Krankheit - Azoren-Krankheit - Joseph-Krankheit - Spinozerebellare Ataxie, Typ 3 - Striatonigrale Degeneration, automal-dominante - Joseph-Azoren-Krankheit - Machado-Krankheit Español: ENFERMEDAD DE MACHADO-JOSEPH - ENFERMEDAD AZOREANA - ENFERMEDAD DE JOSEPH - ATAXIA ESPINOCEREBELOSA TIPO 3 - DEGENERACION ESTRIATONIGRAL AUTOSOMICA DOMINANTE - ATAXIA ESPINOCEREBELAR TIPO 3 Português: DOENCA DE MACHADO-JOSEPH - DOENCA DOS ACORIANOS - DOENCA DE JOSEPH - ATAXIA ESPINOCEREBELAR TIPO 3 - DEGENERACAO ESTRIATONIGRAL AUTOSSOMICA DOMINANTE HONselect ressources Definition: Yes Articles: Yes Images: No News: No Conferences: No Clinical trials: No Web sites: English Yes Français No Deutsch No Español No Português No Home About us Site map Feedback ... HONewsletter http://www.hon.ch/HONselect/RareDiseases/C10.228.140.252.700.700.500.html

14. Neurobiology Of Disease Journal Entry 9 The gene for machadojoseph disease maps to the same 3-cM interval asthe spinal cerebellar ataxia 3 gene on chromosome 14q. G. Stevanin http://www.neuro.wustl.edu/journal/jrnl9.htm

The gene for Machado-Joseph disease maps to the same 3-cM interval as the spinal cerebellar ataxia 3 gene on chromosome 14q G. Stevanin: , P. S. Sousa: , G. Cancel: , A. Durr: , 0. Dubourg: , G. A. Nicholson: , J. Weissenbach: , E. Jardim: , Y. Agid: , E. Cassa: , A. Brice: )INSERM U289, Hopital de la Salpetriere, Paris, France, )Departamento de Neurologia, Hospital das Clinicas, Universidade de Sao Paulo, Ribeirao Preto, Sao Paulo, Brasil, )Department of Medicine, Molecular Genetics and Medicine Laboratory, University of Sydney, Concord Hospital, New South Wales, Australia and )Genethon, Evry, France Correspondence: Dr Alexis Brice, INSERM U289, Hopital de la Salpetriere, 47 Bd de I'Hopital, 75651 Parix Cedex 13, France. Fax: 00/33/l/44.24.36.58. Summary Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder in families of Portuguese-Azorean ancestry. The gene responsible for MJD has been assigned to a 29-cM interval on chromosome 14q. A large Brazilian family with MJD was genotyped with six new microsatellite markers spanning 19 cM on chromosome 14q. Linkage analysis and haplotype reconstruction reduced the MJD candidate region to a 3-cM interval between markers D14S280 and D14S81, permitting positional cloning. This interval also contains the spinal cerebellar ataxia 3 (SCA3) gene, responsible for a genetic subtype of the type I autosomal dominant cerebellar ataxias, clinically related to MJD. This result supports the hypothesis that abnormalities in the same gene may be responsible for both disorders. The minor clinical differences between the two diseases may result from allelic heterogeneity.

15. The Family Village / Library / Machado-Joseph Disease (MJD) machadojoseph disease (MJD). Journal. machado-joseph disease FromNational Institutes of Health (NIH). machado-joseph disease From http://www.familyvillage.wisc.edu/lib_machado.htm

Machado-Joseph Disease (MJD) Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search AltaVista for "Machado-Joseph Disease" Who to Contact International Joseph Diseases Foundation, Inc. P.O Box 767 Montague, CA 96064 E-mail: bashor@snowcrest.net Web: http://www.IJDF.net Ataxia MJD Research Project, Inc. 875 Mahler Road, Suite 161 Burlingame, CA 94010-1621 (650) 259-3983 fax E-mail: LDenning@ataxiamjd.org Website: http://www.ataxiamjd.org/ Ataxia MJD Research Project is a nonprofit corporation whose mission is to follow and fund medical research that will help scientists find a cure for Machado-Joseph Disease (MJD) and similar disorders. MJD Family Network Newsletter c/o Mike and Phyllis Cote 591 Federal Furnace Road Plymouth, MA 02360-4761 Where to Go to Chat with Others We are unaware of any discussion forums specifically for this diagnosis. However, there are several forums that may be of interest to parents of children with disabilities or special health care needs regardless of diagnosis. See General Disability On-Line Discussion Groups Learn More About It The gene for Machado-Joseph disease maps to the same 3-cM interval as the spinal cerebellar ataxia 3 gene on chromosome 14q From the Neurobiology of Disease Journal Machado-Joseph Disease From National Institutes of Health (NIH) Machado-Joseph Disease From Online Mendelian Inheritance of Man (OMIM) Machado-Joseph Disease From PEDBASE Machado-Joseph Disease Fact Sheet From Dr. Lewis Sudarsky, MD, Department of Neurology, VA Medical Center

16. NIH Guide: THE HEREDITARY ATAXIAS INCLUDING MACHADO-JOSEPH DISEASE THE HEREDITARY ATAXIAS INCLUDING machadojoseph disease NIH GUIDE, Volume 21, Number9, March 6, 1992 PA PA-92-48 PT 34 Keywords Genetics Pathophysiology http://grants.nih.gov/grants/guide/pa-files/PA-92-048.html

Return to 1992 Index Return to NIH Guide Main Index Department of Health and Human Services National Institutes of Health (NIH) 9000 Rockville Pike Bethesda, Maryland 20892

17. Publicações Translate this page machado-joseph disease in pedigrees of Azorean descent is linked tochromosome 14. Am. J. Hum. Genet., 55 120-5. Lima, M., 1994. http://www.uac.pt/paginas/gain/pub_p.html

Publicações Teses Capítulos de livros Revistas Nacionais Revistas Internacionais ... Apresentações em Congressos Teses Lima, M., 1996. Doença de Machado-Joseph nos Açores: Estudo Epidemiológico, Biodemográfico e Genético , 299 pp. Dissertação de Doutoramento, Universidade dos Açores, Ponta Delgada (Menção Honrosa do Prémio de Genética Médica "Jacinto de Magalhães", 1996). Capítulos de livros Gonzalez, C., 1996. Aspectos psicológicos na Doença de Machado-Joseph , pp. 49-54. In: Sequeiros, J. (Ed.), O Teste Preditivo da Doença de Machado-Joseph, UnIGENe, Porto. Lima, M., 1996. Demografia e Genética Histórica na Doença de Machado-Joseph , pp. 27-32. In: Sequeiros, J. (Ed.), O Teste Preditivo da Doença de Machado-Joseph, UnIGENe, Porto. Santos, J., 1996. A experiência do Serviço de Neurologia de Ponta Delgada , pp. 23-25. In: Sequeiros, J. (Ed.), O Teste Preditivo da Doença de Machado-Joseph, UnIGENe, Porto. Revistas Internacionais Machado-Joseph disease in pedigrees of Azorean descent is linked to chromosome 14 . Am. J. Hum. Genet., 55: 120-5.

18. Machado-Joseph Disease Fact Sheet NINDS is part of the National Institutes of Health Contact us . Content forthis page. machadojoseph disease Fact Sheet. What is machado-joseph disease? http://accessible.ninds.nih.gov/health_and_medical/pubs/machado-joseph.htm

Disorders - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus Main sections of the NINDS web site Home About NINDS Disorders-you are in this section ... Find People Disorders section pages and search Image Description Science For the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system. Select Topic Disorder Quick Links Alzheimer's Autism Cerebral Palsy Chronic Pain Epilepsy Headache Multiple Sclerosis Parkinson's Stroke Traumatic Brain Injury More about a disorder Studies with patients Research literature Press release NINDS Search (search help) Contact us My privacy NINDS is part of the National Institutes of Health Contact us Content for this page Machado-Joseph Disease Fact Sheet Get Web page suited for printing Email this to a friend or colleague Request free mailed brochure Table of Contents What is Machado-Joseph Disease? What are the different types of Machado-Joseph Disease? What causes Machado-Joseph Disease? How is Machado-Joseph Disease diagnosed? ... Where can I get more information? What is Machado-Joseph Disease? Machado-Joseph disease (MJD)-also called spinocerebellar ataxia type 3-is a rare hereditary ataxia. (Ataxia is a general term meaning lack of muscle control.) The disease is characterized by clumsiness and weakness in the arms and legs, spasticity, a staggering lurching gait easily mistaken for drunkenness, difficulty with speech and swallowing, involuntary eye movements, double vision, and frequent urination. Some patients have dystonia (sustained muscle contractions that cause twisting of the body and limbs, repetitive movements, abnormal postures, and/or rigidity) or symptoms similar to those of Parkinson's disease. Others have twitching of the face or tongue, or peculiar bulging eyes.

19. NINDS Machado-Joseph Disease Information Page More about NINDS machadojoseph disease Information Page. Content for thispage. NINDS machado-joseph disease Information Page. Reviewed 11-30-2001. http://accessible.ninds.nih.gov/health_and_medical/disorders/machado-joseph.htm

Disorders - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus Main sections of the NINDS web site Home About NINDS Disorders-you are in this section ... Find People Disorders section pages and search Image Description Science For the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system. Select Topic Disorder Quick Links Alzheimer's Autism Cerebral Palsy Chronic Pain Epilepsy Headache Multiple Sclerosis Parkinson's Stroke Traumatic Brain Injury More about NINDS Machado-Joseph Disease Information Page Studies with patients Research literature Press release NINDS Search (search help) Contact us My privacy NINDS is part of the National Institutes of Health Contact us Content for this page NINDS Machado-Joseph Disease Information Page Reviewed 11-30-2001 Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Machado-Joseph Disease? Is there any treatment? What is the prognosis? What research is being done? ... Related NINDS Publications and Information What is Machado-Joseph Disease? Is there any treatment?

20. Grewal Et Al. Machado-Joseph Disease RP, Cancel G, Leeflang EP, Duerr A, McPeek MS, Draghinas D, Yao X, Stevanin G, AlnotMO, Brice A, Arnheim N (1999) French machadojoseph disease patients do http://galton.uchicago.edu/~mcpeek/data/grewaletal.html

Likelihood analysis of segregation distortion in sperm-typing data for Grewal RP, Cancel G, Leeflang EP, Duerr A, McPeek MS, Draghinas D, Yao X, Stevanin G, Alnot M-O, Brice A, Arnheim N (1999) "French Machado-Joseph Disease patients do not exhibit gametic segregation distortion: A sperm typing analysis" Human Molecular Genetics 8:1779-1784. Data Data are presented from 5 donors who are MJD patients of French descent. For details, see the paper For donor 1, we have the following data on 156 single sperm typed at both the MJD1 locus and at the closely-linked marker D14S1050, where A represents the mutant MJD1 allele, a represents the wild-type MJD1 allele, B represents the D14S1050 allele linked to the mutant MJD1 allele, and b represents the D14S1050 allele linked the the wild-type MJD1 allele. Coamplification data (Donor 1) -b a- ab -B -B-b -Ba- -Bab A- Ab A-a- A-ab AB AB-b ABa- ABab Total For donors 1 through 5, we have the following data on sperm typed at D14S1050, where B represents the allele linked the mutant MJD1 allele while b represents the allele linked to the wild-type MJD1 allele. Donor 1 -b -B -B-b Total Donor 2 -b -B -B-b Total Donor 3 -b -B -B-b Total Donor 4 -b -B -B-b Total Donor 5 -b -B -B-b Total Model We performed a likelihood-based analysis of segregation distortion in the single sperm data using the SPERMSEG program of McPeek (1999) "SPERMSEG: analysis of segregation distortion in sigle-sperm data" American Journal of Human Genetics 65:1195-1197.

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