Identification of seven novel mutations in LH beta-subunit gene by SSCP

A C Roy; W X Liao; Y Chen; S Arulkumaran; S S Ratnam

doi:10.1007/BF00229477

Identification of seven novel mutations in LH beta-subunit gene by SSCP

Mol Cell Biochem. 1996 Dec 20;165(2):151-3. doi: 10.1007/BF00229477.

Authors

A C Roy¹, W X Liao, Y Chen, S Arulkumaran, S S Ratnam

Affiliation

¹ Department of Obstetrics and Gynaecology, National University of Singapore, National University Hospital, Singapore.

PMID: 8979264
DOI: 10.1007/BF00229477

Abstract

Seven new point mutations have been identified from LH beta-subunit gene by PCR-mediated SSCP, and sequencing. One mutation was found changing amino acid from Gln102 to Ser102. The remaining six mutations, which did not change the codings, were in complete linkage disequilibrium. SSCP can be used in the diagnosis of LH-related disorders.

MeSH terms

DNA Mutational Analysis
DNA Restriction Enzymes
Gene Frequency
Humans
Luteinizing Hormone / genetics*
Mutation*
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational

Substances

Luteinizing Hormone
DNA Restriction Enzymes