Bloom's syndrome. VI. The disorder in Israel and an estimation of the gene frequency in the Ashkenazim.
Year: 1977
Type: article
Abstract: An effort was made to identify all individuals with Bloom's syndrome living in Israel between September 1971 and September 1972. Each of the eight individuals located were Jewish and could readily be classified Ashkenazic. The frequency of the Bloom's syndrome gene in Ashkenazim was estimated to be .0042 (minimum), implying a heterozygote frequency greater than 1 in 120. A striking distortion of the sex ratio (M/F = 7.0) may have been due to underascertainment of affected females. One of the affected individuals ascertained during the survey subsequently has died from cancer, which is in keeping with the recognized cancer proneness of this condition. Four of the affected have married, but no conception is known to have occurred, which suggests that sub- or infertility is a feature of the syndrome.
Source: Europe PMC (PubMed Central)
Authors: J German, D Bloom, E Passarge, K Fried, R M Goodman, I Katzenellenbogen, Z Laron, C Legum, S Levin, Wahrman
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W191369879