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内盖夫地区贝都因人群中的近亲结婚与遗传疾病

Consanguinity and genetic diseases among the Bedouin population in the Negev.

作者信息

Singer Sarah, Davidovitch Nadav, Abu Fraiha Yasmeen, Abu Freha Naim

机构信息

Global Health Program, Ben-Gurion University of the Negev, Beersheba, Israel.

Department of Health Systems Management, School of Public Health, Faculty of Health Sciences, Ben Gurion University of the Negev, Beersheba, Israel.

出版信息

J Community Genet. 2020 Jan;11(1):13-19. doi: 10.1007/s12687-019-00433-8. Epub 2019 Aug 2.

Abstract

Arab Bedouins (AB) in Israel are traditionally a semi-nomadic population. Their average birth rate is extremely high (birth rate of 5.43, as well is their high consanguinity rate (44%), despite having decreased from 60% in 1992. Additionally, their mean inbreeding coefficient is 0.0238.The high rate of consanguinity results in a high prevalence of recessive genetic and multifactorial disorders as well as high infant mortality rate (11 per 1000 live births). Various genetic diseases are prevalent in AB, exemplifying how extensive the impact of consanguinity is on the community. Targeted screening programs are provided for prevalent severe genetic diseases. However, despite initial success, genetic screening is still underutilized in AB. AB, the Ministry of Health, the Ministry of Education, and different social associations should plan and manage programmed interventions. These programs should work intensively to further educate and raise awareness regarding consanguinity and its potential harms, to increase trust and collaboration between the community and the public health system, to expand screening and premarital consultations, and to create a genetic bank (specific mutations/whole genome) for the AB community.

摘要

以色列的阿拉伯贝都因人(AB)传统上是半游牧民族。他们的平均出生率极高(出生率为5.43),近亲结婚率也很高(44%),尽管已从1992年的60%有所下降。此外,他们的平均近亲繁殖系数为0.0238。高近亲结婚率导致隐性遗传和多因素疾病的高患病率以及高婴儿死亡率(每1000例活产中有11例)。各种遗传疾病在阿拉伯贝都因人中很普遍,这例证了近亲结婚对该群体的影响有多大。针对常见的严重遗传疾病开展了有针对性的筛查项目。然而,尽管初期取得了成功,但基因筛查在阿拉伯贝都因人中仍未得到充分利用。阿拉伯贝都因人、卫生部、教育部和不同的社会协会应规划和管理有计划的干预措施。这些项目应大力开展工作,进一步开展教育并提高对近亲结婚及其潜在危害的认识,增进该群体与公共卫生系统之间的信任与合作,扩大筛查和婚前咨询,并为阿拉伯贝都因人群体建立一个基因库(特定突变/全基因组)。

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