Hadassah-Hebrew University Medical School, Jerusalem, Israel.
Hum Genet. 2019 Oct;138(10):1117-1122. doi: 10.1007/s00439-019-02043-3. Epub 2019 Jun 26.
The Israeli population mainly includes Jews, Muslim and Christian Arabs, and Druze. Data on genetic diseases present in the population have been systematically collected and are available online in the Israeli national genetic database. Among the Israeli Arabs in December 31 2018, the database included molecular data on six diseases relatively frequent in the whole population: thalassemia, familial Mediterranean fever (FMF), cystic fibrosis, deafness, phenylketonuria or congenital adrenal hyperplasia as well as data on 632 autosomal recessive diseases among Muslim Israeli Arabs, 52 among the Christian Arabs and 79 among Druze. A single variant was characterized in 590 out of the 771 genes causing disorders in which the molecular basis was known. Many of the variants reported among Arabs in Israel are novels, most being found in one community only. Some variants are ancient and for instance, consistent with the migration history, several variants are found in the Bedouins from the Negev as well as from the Arab peninsula. In the 181 other disorders more than one variant was characterized either in the same gene or in more than one gene. While it is probable that most of these cases represent random events in some cases the reason may be a selective advantage to the heterozygotes.
以色列人口主要包括犹太人、穆斯林和基督教阿拉伯人以及德鲁兹人。有关该人群中遗传疾病的数据已被系统收集，并在以色列国家遗传数据库中在线提供。截至 2018 年 12 月 31 日，在以色列阿拉伯人中，该数据库包括六种在整个人群中相对常见的疾病的分子数据：地中海贫血、家族性地中海热 (FMF)、囊性纤维化、耳聋、苯丙酮尿症或先天性肾上腺增生症，以及 632 种穆斯林以色列阿拉伯人、52 种基督教阿拉伯人和 79 种德鲁兹人常染色体隐性疾病的数据。在已知分子基础的导致疾病的 771 个基因中，有 590 个基因的单一变异被特征化。在以色列阿拉伯人中报告的许多变体都是新颖的，大多数变体仅在一个社区中发现。一些变体是古老的，例如，与迁徙历史一致，几种变体在来自内盖夫的贝都因人以及阿拉伯半岛都有发现。在另外 181 种疾病中，一个基因或多个基因中都有一个以上的变异被特征化。虽然这些病例中的大多数可能是随机事件，但在某些情况下，原因可能是杂合子具有选择优势。
