title: Identification of seven novel mutations in LH beta-subunit gene by SSCP.
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.
authors.affiliation: Department of Obstetrics and Gynaecology, National University of Singapore, National University Hospital, Singapore.
authors.forename: A C
authors.initials: AC
authors.lastname: Roy
authors.forename: W X
authors.initials: WX
authors.lastname: Liao
authors.forename: Y
authors.initials: Y
authors.lastname: Chen
authors.forename: S
authors.initials: S
authors.lastname: Arulkumaran
authors.forename: S S
authors.initials: SS
authors.lastname: Ratnam
mesh_terms: D004252:DNA Mutational Analysis; D004262:DNA Restriction Enzymes; D005787:Gene Frequency; D006801:Humans; D007986:Luteinizing Hormone / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D007986:Luteinizing Hormone; D004262:DNA Restriction Enzymes