Document Detail


Polymorphisms in the coding exons of the human luteinizing hormone receptor gene. Mutations in brief no. 124. Online.
MedLine Citation:
PMID:  10215412     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Four polymorphisms were identified in the coding exons of the human luteinizing hormone/chorionic gonadotropin receptor (hLHR) gene. A CTGCAG insertion occurred after nucleotide 54 in 8 of 34 independent chromosomes examined. The heterozygosity frequency was 0.353. This Leu-Gln dipeptide insertion in the first Leucine repeat of the hLHR extracellular domain did not affect the ligand binding affinity of the receptor. Among the 54 chromosomes analyzed, 64.8% was A and 35.2% was G at nucleotide 872 in exon 10. The heterozygosity frequency was 0.115. The A/G substitution led to the replacement of Asn by Ser in the G allele and the abolition of a potential N-glycosylation site. Another polymorphism occurred at nucleotide 935. Fifty nine percent of chromosomes examined were A and 41% were G at this site with the encoded amino acid being Ser in the former and Asn in the latter. The heterozygosity frequency was 0.192. This polymorphism did not have biological consequence. Both of the exon 10 polymorphisms showed ethnic prevalence with the 872 G allele and 935 A allele predominantly in non-Caucasians. The fourth polymorphism was neutral and occurred at nucleotide 1065 in exon 11, with C in 60% and T in 40% of the 50 chromosomes examined. These polymorphisms are useful for tracking the inheritance of specific hLHR allele.
Authors:
S M Wu; M Jose; K Hallermeier; O M Rennert; W Y Chan
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Human mutation     Volume:  11     ISSN:  1059-7794     ISO Abbreviation:  Hum. Mutat.     Publication Date:  1998  
Date Detail:
Created Date:  1999-04-20     Completed Date:  1999-04-20     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9215429     Medline TA:  Hum Mutat     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  333-4     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, Georgetown University Medical Center, Washington, DC., USA.
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MeSH Terms
Descriptor/Qualifier:
Alleles
Binding Sites / genetics
Chromosome Mapping
Exons / genetics*
Glycosylation
Heterozygote
Humans
Polymorphism, Genetic / genetics*
Reading Frames / genetics*
Receptors, LH / genetics*
Chemical
Reg. No./Substance:
0/Receptors, LH

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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