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尼日利亚人的Hpa-I多态性与镰状基因

Hpa-I 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, College of Medicine, University College Hospital, Ibadan, Nigeria.

出版信息

Trop Geogr Med. 1989 Apr;41(2):133-7.

PMID:2569780
Abstract

The Hpa-I restriction fragment length polymorphism linked to the beta globin genes was studied in 181 Nigerian subjects. The beta S gene was found to be linked to the 13 kilobase (kb) Hpa-I fragment in 98.4 percent while 1.6 percent was linked to the Hpa-I 7.6 kb fragment. The majority of beta A genes (94.2%) was found to be linked to either the 7.6 or 7.0 kb fragment whilst the remainder (5.8%) was linked to the 13.0 kb. The beta A 13 kb linkage and the small proportion of the beta S genes linked to the 7.6 kb fragment would lessen the accuracy of the Hpa-I polymorphism in the prenatal diagnosis of sickle cell anaemia in this population.

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Hpa - I限制性片段长度多态性。发现98.4%的βS基因与13千碱基(kb)的Hpa - I片段相连,而1.6%与Hpa - I 7.6 kb片段相连。发现大多数βA基因(94.2%)与7.6或7.0 kb片段相连,其余(5.8%)与13.0 kb片段相连。βA 13 kb的连锁以及与7.6 kb片段相连的小比例βS基因会降低该人群中Hpa - I多态性在镰状细胞贫血产前诊断中的准确性。

相似文献

1
Hpa-I polymorphism and the sickle gene in Nigerians.尼日利亚人的Hpa-I多态性与镰状基因
Trop Geogr Med. 1989 Apr;41(2):133-7.
2
Heterogeneity of DNA fragments associated with the sickle-globin gene.与镰状血红蛋白基因相关的DNA片段的异质性
J Clin Invest. 1979 Sep;64(3):751-5. doi: 10.1172/JCI109519.
3
HpaI polymorphism and the sickle gene in Nigerians.尼日利亚人中的HpaI多态性与镰状基因
Gene Geogr. 1988 Apr;2(1):9-14.
4
[Antenatal diagnosis of sickle-cell anaemia by DNA analysis of amniotic fluid cells. A preliminary study in the French West-Indies (author's transl)].[通过羊水细胞DNA分析进行镰状细胞贫血的产前诊断。法属西印度群岛的初步研究(作者译)]
Nouv Presse Med. 1981 Feb 14;10(6):387-9.
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Beta-globin gene polymorphism in Saudis--triple Hpa I fragments.沙特人β-珠蛋白基因多态性——Hpa I三联体片段
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Beta-globin gene polymorphism in Saudis: 5.6 Hpa I fragment.沙特人的β-珠蛋白基因多态性:5.6 Hpa I片段。
Hum Hered. 1987;37(4):237-40. doi: 10.1159/000153710.
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Raised Hb F levels in sickle cell disease are caused by a determinant linked to the beta globin gene cluster.镰状细胞病中升高的胎儿血红蛋白(Hb F)水平是由一个与β珠蛋白基因簇相关的决定因素引起的。
Prog Clin Biol Res. 1987;251:427-39.
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Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation.人类β-珠蛋白结构基因旁DNA序列的多态性:与镰状突变的关系。
Proc Natl Acad Sci U S A. 1978 Nov;75(11):5631-5. doi: 10.1073/pnas.75.11.5631.
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Multiple origins of the sickle mutation: evidence from beta S globin gene cluster polymorphisms.镰状突变的多个起源:来自βS珠蛋白基因簇多态性的证据
Mol Biol Med. 1983 Sep;1(2):191-7.

引用本文的文献

1
Haplotypes in SS patients from Nigeria; characterization of one atypical beta S haplotype no. 19 (Benin) associated with elevated HB F and high G gamma levels.尼日利亚镰状细胞贫血患者的单倍型;与胎儿血红蛋白升高和高γ-珠蛋白水平相关的一种非典型βS单倍型19(贝宁型)的特征分析
Ann Hematol. 1992 Jul;65(1):41-5. doi: 10.1007/BF01715125.