Carrier Screening for Mucolipidosis Type IV in the American Ashkenazi Jewish Population
โ Scribed by Lisa Edelmann; Jianli Dong; Robert J. Desnick; Ruth Kornreich
- Book ID
- 117853852
- Publisher
- American Society of Human Genetics
- Year
- 2002
- Tongue
- English
- Weight
- 359 KB
- Volume
- 70
- Category
- Article
- ISSN
- 0002-9297
- DOI
- 10.1086/339519
No coin nor oath required. For personal study only.
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The gene MCOLN1 is mutated in Mucolipidosis type IV (MLIV), a neurodegenerative, recessive, lysosomal storage disorder. The disease is found in relatively high frequency among Ashkenazi Jews due to two founder mutations that comprise 95% of the MLIV alleles in this population [Bargal et al., 2000].
Mucolipidosis type IV (MLIV) is a neurodegenerative lysosomal storage disorder that occurs in an increased frequency in the Ashkenazi Jewish (AJ) population. The frequency of the disease in this population has been established by the testing of 66,749 AJ subjects in the Dor Yeshorim program, a uniqu