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12/01/18

巴基斯坦数据库来处理遗传疾病

pakistan mothers
Copyright: Panos

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  • Marriages among close cousins come with high medical risks
  • Pakistan’s genetic mutation database covers 1,000 mutations in 120 disorders
  • Database may help provide counselling, aid in personalised healthcare

经过：Saleem Shaikh

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[伊斯兰堡]巴基斯坦是一个近亲之间婚姻率高的国家，他通过建立遗传突变迈出了处理遗传疾病的一步database，或者，开发人员说将有助于提供遗传咨询和筛查，并帮助个性化healthcare。

巴基斯坦基因突变数据库（PGMD）已经涵盖了1,000个突变，涉及120种类型的综合症和非混合性疾病，是使用参考和摘要的PubMed数据库以及与该国领先的领先领导者的咨询来构建的。遗传scientists.

Saadullah Khan, PGMD’s chief coordinator, assistant professor of biotechnology and genetic engineering inKohat University of Science & Technology，以及一个report在2017年12月发布的项目上European Journal of Medical Genetics,says the database is valuable in Pakistan where marriages among close cousins are common.

“第一场家婚姻的医疗风险包括较高的婴儿死亡率，先天缺陷，学习困难，失明，聋哑，愚蠢，癫痫，癫痫，丘脑症，自发性堕胎，不育，沉着和代谢障碍”

Haider Shirazi

According to information on the PGMD website, the rate of consanguineous marriages (marriages among close cousins) in Pakistan is 62.70 per cent — by far the highest among countries in the ‘consanguinity belt’ which includes several countries of the Middle East where the rate averages at 40 per cent.

Khan said that work to identify genes responsible for various diseases, which showed up a number of mutations, led to the development of the PGMD. “The high ratio of first degree consanguinity makes the Pakistani population a rich source for various kinds of genetic disorders.”

可汗告诉scidev.netthat while the PGMD will assist researchers, clinicians and genetic counsellors, high priority has been given to ensure security and confidentiality. “To avoid chances of data being compromised or used in any questionable way, we have kept secret the identities, addresses, ethnicity, locality, gender etc., of individuals.”

Experts say that about 29 million people out of Pakistan’s 200 million population suffer from genetic defects attributable to close or first-cousin marriages.

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“The medical risks of first-cousin marriages include higher rates of infant mortality, birth defects, learning difficulties, blindness, deafness, dumbness, epilepsy, thalassemia, spontaneous abortion, infertility, stillbirth and metabolic disorders,” says Haider Shirazi, chief paediatrician at the巴基斯坦医学学院。

首席遗传和生物技术学家theNational Institute of Biotechnology and Genetic Engineering沙希德·曼索尔（Shahid Mansoor）说，PGMD是一个突破，可以帮助促进遗传筛查和咨询，并提高公众对近交中杂物作用的认识。

曼索尔说：“激励人们进行婚前基因测试并避免堂兄婚姻（占巴基斯坦）婚姻的一半以上 - 对后代健康很重要。”

这件作品由Scidev.net的亚太桌子制作。

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