A rapid method for detecting the predominant Ashkenazi Jewish mutation in the Bloom's Syndrome gene

Human Mutation

Volumn 11, Issue 2, 1998, Pages 175-178

  Straughen, Joel E ^a   Johnson, Juliana ^a   McLaren, Donna ^a   Proytcheva, Maria ^b   Ellis, Nathan ^b   German, James ^b   Groden, Joanna ^a  

^a UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

^b NEW YORK BLOOD CENTER   (United States)

Author keywords

Bloom's syndrome; Carrier detection; DNA screening; Jewish genetic diseases; Mutation detection, Ashkenazi Jewish

Indexed keywords

DNA;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOM SYNDROME; CANCER SUSCEPTIBILITY; CONTROLLED STUDY; GENE MUTATION; GENETIC SCREENING; HETEROZYGOTE DETECTION; HUMAN; HUMAN CELL; JEW; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SHORT STATURE;

EID: 0031931633     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)11:2<175::AID-HUMU11>3.0.CO;2-W     Document Type: Article

References (6)

1. Ellis NA, Groden J, Ye T-Z, Straughen J, Lennon DJ, Ciocci S, Proytcheva M, German J (1995) The Bloom's syndrome gene product is homologous to recQ helicases. Cell 83:655-666.
2. German J (1993) Bloom syndrome: A mendelian prototype of somatic mutational disease. Medicine (Baltimore) 72: 393-406.
3. German J (1979) Bloom's syndrome. VIII. Review of clinical and genetic aspects. In: Genetic Diseases Among Ashkenazi Jews. Raven Press, New York, pp 121-139.
4. German J, Passarge E (1989) Bloom's syndrome. XII. Report from the Registry 1987. Clin Genet 35:57-69.
5. Maniatis T, Fritsch EF, Sambrook J (1982) Molecular Cloning. A Laboratory Manual. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press.
6. Straughen JE, Johnson J, German J, Ellis NA, Groden J (1997) Genomic structure of BLM, the Bloom's syndrome gene (in preparation).