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尼日利亚人中的HpaI多态性与镰状基因

HpaI polymorphism and the sickle gene in Nigerians.

作者信息

Falusi A G, Esan G J

机构信息

Postgraduate Institute of Medical Research and Training, University of Ibadan, Nigeria.

出版信息

Gene Geogr. 1988 Apr;2(1):9-14.

PMID:2908723
Abstract

The HpaI restriction fragment length polymorphism linked to the beta globin gene was studied in 181 Nigerian subjects. The beta s gene was found in the 13 kilobase (kb) HpaI fragment in 98.4 percent and in the remaining 1.6 percent of the cases in the HpaI 7.6 kb fragment. The majority of beta A genes (94.2%) were found in either the 7.6 or the 7.0 kb fragment whilst the remainders (5.8%) were in the 13.0 kb fragment. The rare, but not zero, associations of beta A with the 13 kb linkage and of beta s genes with the 7.6 kb fragment would lessen the accuracy in the prenatal diagnosis of sickle cell anaemia in this population through the use of the HpaI polymorphism.

摘要

在181名尼日利亚受试者中研究了与β珠蛋白基因相关的HpaI限制性片段长度多态性。在98.4%的病例中,βs基因存在于13千碱基(kb)的HpaI片段中,其余1.6%的病例中βs基因存在于7.6 kb的HpaI片段中。大多数βA基因(94.2%)存在于7.6 kb或7.0 kb的片段中,其余(5.8%)存在于13.0 kb的片段中。βA与13 kb连锁以及βs基因与7.6 kb片段之间存在罕见但不为零的关联,这会降低通过使用HpaI多态性对该人群镰状细胞贫血进行产前诊断的准确性。

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