A CHINESE FAMILIAL GROWTH-HORMONE DEFICIENCY WITH A DELETION OF 7.1 KB OF DNA

被引：11

作者：

HE, YA

CHEN, SS

WANG, YX

LIN, XY

WANG, DF

机构：

[1] SHANGHAI MED UNIV 2,DEPT BIOCHEM,280 S CHONGQIN RD,SHANGHAI 200025,PEOPLES R CHINA

[2] SHANGHAI MED UNIV 2,RUI JING HOSP,DEPT PAEDIAT,SHANGHAI,PEOPLES R CHINA

[3] SHANGHAI MED UNIV 2,MOLEC BIOL LAB,SHANGHAI 200025,PEOPLES R CHINA

来源：

JOURNAL OF MEDICAL GENETICS | 1990年 / 27卷 / 03期

关键词：

D O I：

10.1136/jmg.27.3.151

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Using restriction endonuclease analysis and a human growth hormone cDNA probe, we have found a Chinese family with a human growth hormone gene deletion. Two affected sibs are homozygous for a deletion of approximately 7.1 kb of DNA, which contains the normal human growth hormone gene. The patients' parents and grandmothers are heterozygous for the deleted gene. Their grandfathers are normal and homozygous for the hGH-N gene. All of them have normal stature.

引用

页码：151 / 154

页数：4

共 13 条

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BARAG S, 1985, PROG CLIN BIOL RES, V200, P103

[2] THE HUMAN GROWTH-HORMONE GENE FAMILY - STRUCTURE AND EVOLUTION OF THE CHROMOSOMAL LOCUS [J].