Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease

Journal Article · Wed Jan 01 00:00:00 EST 1992 · American Journal of Human Genetics; (United States)

OSTI ID:5312581

Shoshani, T; Bashan, N; Seret, H; Kerem, B; Kerem, E ^[1]; Augarten, A; Gazit, E; Yahav, Y; Yaar, L ^[2]; Rivlin, Y ^[3]; Tal, A ^[4]

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1. Hebrew Univ., Jerusalem (Israel)
2. Tel Aviv Univ. (Israel)
3. Technion Medical School, Jaifa (Israel)
4. 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), Vol. 50:1; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
GENE MUTATIONS
DNA SEQUENCING
HEREDITARY DISEASES
ETIOLOGY
FIBROSIS
GEOGRAPHICAL VARIATIONS
HUMAN POPULATIONS
ISRAEL
MUTATION FREQUENCY
PHENOTYPE
ASIA
DEVELOPING COUNTRIES
DISEASES
MIDDLE EAST
MUTATIONS
PATHOLOGICAL CHANGES
POPULATIONS
STRUCTURAL CHEMICAL ANALYSIS
VARIATIONS
550200* - Biochemistry