Lower frequency of gaucher disease carriers among Tay-Sachs disease carriers

European Journal of Human Genetics

Volumn 6, Issue 2, 1998, Pages 185-186

  Peleg, L ^a,b   Frisch, A ^b   Goldman, B ^a,b   Karpaty, M ^a   Narinsky, R ^b   Bronstein, S ^a   Frydman, M ^a,b  

^a SHEBA MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

GAUCHER DISEASE; GENE FREQUENCY; GENE MUTATION; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; SHORT SURVEY; TAY SACHS DISEASE;

EID: 0031978285     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200176     Document Type: Short Survey

References (11)

1. Beutler E, Grabowski GA: Gaucher disease. In: Scriver CR, Beaudet AL, Sly WS and Valle D (eds). The Metabolic and Molecular Bases of Inherited Disease McGraw-Hill, USA: 1995; pp 2641-2670.
2. Gravel RA, Clarke JTR, Kaback MM, Mahuran D, Sandhoff K and Suzuki K: The GM2 gangliosidoses. In: Scriver CR, Beaudet AL, Sly WS and Valle D (eds). The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, USA: 1995; pp 2839-2882.
3. Goodman RM: Genetic Disorders among the Jewish People. Johns Hopkins University Press, Baltimore 1978.
4. Diamond JM: Jewish Lysosomes. Nature 1994; 368: 291-292.
5. Zlotogora J, Ziegler M, Bach G: Selection in favor of lysosomal storage disorders?. Am J Hum Genet 1988; 42: 271-273.
6. Zlotogora J: High frequencies of human genetic diseases: Founder effect with genetic drift or selection?. Am J Med Gen 1994; 49:10-13.
7. Beutler E, West C, Gelbart T: Polymorphism in the human glucocerebrosidase gene. Genomics 1993; 12: 795-800.
8. Kaback MM, Lim-Steele J, Dabholkar D et al: Tay-Sachs disease carrier screening, prenatal diagnosis and the molecular era. JAMA 1993; 17: 2307-2315.
9. Peleg L, Karpati M, Gazit E, Raas-Rothschild A, Goldman B: Mutations of the hexosaminidase A gene in Ashkenazi and non-Ashkenazi Jews. Bioch Med Metab Biol 1994; 52: 22-26.
10. Shore S, Myerowitz R: A gel electrophoretic assay for detecting the insertion defect in Ashkenazi Jewish carriers of Tay-Sachs disease. Anal Biochem 1990; 186: 179-181.
11. Beutler E, Gelbart T, West C: The facile detection of the nt 1226 mutation of glucocerebrosidase by 'mismatched' PCR. Clin Chim Acta 1990; 194: 161-166.