中爪哇地区α地中海贫血的缺失类型。

Deletional types of alpha-thalassaemia in central Java.

作者信息

Tan J A, Tay J S, Soemantri A, Kham S K, Wong H B, Lai P S, Saha N

机构信息

Department of Paediatrics, National University of Singapore.

出版信息

Hum Hered. 1992;42(5):289-92. doi: 10.1159/000154084.

DOI:10.1159/000154084

PMID:1459573

Abstract

The frequency of deletional alpha-thalassaemia in a Javanese population sample (n = 103) was investigated at three restriction sites of the alpha-globin gene (BamHI, BglII and RsaI). The overall gene frequency of alpha+ deletional thalassaemia was found to be very low (0.03). Leftward (-alpha 4.2) and rightward (-alpha 3.7) deletions and triplicated genes were present in equal frequency (0.015 and 0.005, respectively).

摘要

在一个爪哇人群样本（n = 103）中，于α-珠蛋白基因的三个限制性位点（BamHI、BglII和RsaI）研究了缺失型α-地中海贫血的发生频率。发现α+缺失型地中海贫血的总体基因频率非常低（0.03）。向左（-α 4.2）和向右（-α 3.7）的缺失以及三倍体基因的出现频率相等（分别为0.015和0.005）。