A Chinese familial growth hormone deficiency with a deletion of 7.1 kb of DNA

Y A He; S S Chen; Y X Wang; X Y Lin; D F Wang

doi:10.1136/jmg.27.3.151

A Chinese familial growth hormone deficiency with a deletion of 7.1 kb of DNA

J Med Genet. 1990 Mar;27(3):151-4. doi: 10.1136/jmg.27.3.151.

Authors

Y A He¹, S S Chen, Y X Wang, X Y Lin, D F Wang

Affiliation

¹ Department of Biochemistry, Shanghai Second Medical University, China.

Abstract

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.

MeSH terms

Autoradiography
Blotting, Southern
Body Height
Body Weight
Chromosome Deletion*
DNA Probes
Female
Growth Hormone / deficiency*
Growth Hormone / genetics
Growth Hormone / metabolism
Homozygote
Humans
Male
Molecular Weight
Pedigree
Restriction Mapping

Substances

DNA Probes
Growth Hormone