Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease
- Hebrew Univ., Jerusalem (Israel)
- Tel Aviv Univ. (Israel)
- Technion Medical School, Jaifa (Israel)
- Negev Univ., Beer Sheba (Israel)
Only about 30% of the cystic fibrosis chromosomes in the Israeli cystic fibrosis patient populations carry the major CF mutation ({Delta}F508). Since different Jewish ethnic groups tended to live as closed isolates until recent times, high frequencies of specific mutations are expected among the remainder cystic fibrosis chromosomes of these ethnic groups. Genetic factors appear to influence the severity of the disease. It is therefore expected that different mutations will be associated with either severe or mild phenotype. Direct genomic sequencing of exons included in the two nucleotide-binding folds of the putative CFTR protein was performed on 119 Israeli cystic fibrosis patients from 97 families. One sequence alteration which is expected to create a termination at residue 1282 (W1282X) was found in 63 chromosomes. Of 95 chromosomes, 57(60%) are of Ashkenazi origin. In conclusion, the W1282X mutation is the most common cystic fibrosis mutation in the Ashkenazi Jewish patient population in Israel. This nonsense mutation is associated with presentation of severe disease.
- OSTI ID:
- 5312581
- Journal Information:
- American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 50:1; ISSN AJHGA; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
59 BASIC BIOLOGICAL SCIENCES
ASIA
DEVELOPING COUNTRIES
DISEASES
DNA SEQUENCING
ETIOLOGY
FIBROSIS
GENE MUTATIONS
GEOGRAPHICAL VARIATIONS
HEREDITARY DISEASES
HUMAN POPULATIONS
ISRAEL
MIDDLE EAST
MUTATION FREQUENCY
MUTATIONS
PATHOLOGICAL CHANGES
PHENOTYPE
POPULATIONS
STRUCTURAL CHEMICAL ANALYSIS
VARIATIONS