GT repeat polymorphism in the 5′ flanking region of the human growth hormone receptor gene

被引：10
作者：
Hadjiyannakis, S
Zheng, H
Hendy, GN
Goodyer, CG
机构：
[1] McGill Univ, Dept Pediat, Montreal, PQ H3Z 2Z3, Canada
[2] McGill Univ, Dept Human Genet, Montreal, PQ H3Z 2Z3, Canada
[3] McGill Univ, Dept Med, Montreal, PQ H3Z 2Z3, Canada
[4] McGill Univ, Dept Physiol, Montreal, PQ H3Z 2Z3, Canada
来源：
MOLECULAR AND CELLULAR PROBES | 2001年 / 15卷 / 04期
基金：
英国医学研究理事会;
关键词：
human growth hormone receptor gene; 5 ' flanking region; GT repeat polymorphism;
D O I：
10.1006/mcpr.2001.0366
中图分类号：
Q5 [生物化学];
学科分类号：
071010 ; 081704 ;
摘要：
A polymorphic GT dinucleotide repeat sequence has been identified in the 5' flanking region of the human growth hormone receptor (hGHR) gene on chromosome 5p13.1-p12, within the promoter region of the V9 5'UTR exon. Thirteen alleles have been identified in 50 non-related individuals, with an observed heterozygosity of 52%. The major allele contains 24 repeats, although a range of 19-32 repeats has been observed. Codominant segregation was demonstrated in five two-generation and two three-generation families. This marker may be useful in analysing the role of the hGHR gene in pre- and postnatal growth disorders. (C) 2001 Academic Press.
引用
收藏
页码：239 / 242
页数：4
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