Document Detail


Rapid analysis of CGG repeat length in the FMR1 gene.
MedLine Citation:
PMID:  11097353     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The number of trinucleotide CGG repeats at the 5' untranslated region of the FMR1 gene is associated with the fragile X syndrome of mental retardation. We screened for the CGG repeat length in the FMR1 gene of the X-chromosomes from unrelated normal Chinese subjects recruited in Hong Kong and Dalian, a southern and a northern Chinese city respectively. These cities are about 3000 km apart and the residents have few historical interactions. Genomic DNA was analysed by PCR and detected by Southern hybridisation with a radiolabelled (CGG)5 probe for the CGG repeat number. A different distribution pattern of CGG allele size from the Caucasians is observed. It is a bimodal pattern with the most common CGG repeats allele at 29 against 30 in the Caucasians. Among the Hong Kong subjects, five alleles of more than 50 CGG repeats were detected, and four of those were in heterozygous females. There was no difference in the repeat patterns in subjects from the two cities, suggesting no genotypic variation in FMR1 between northern and southern Chinese.
Authors:
P M Poon; Z Zhao; X Q Wu; Y X Ni; C P Pang
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Publication Detail:
Type:  Comparative Study; Journal Article    
Journal Detail:
Title:  Clinical chemistry and laboratory medicine : CCLM / FESCC     Volume:  38     ISSN:  1434-6621     ISO Abbreviation:  Clin. Chem. Lab. Med.     Publication Date:  2000 Sep 
Date Detail:
Created Date:  2001-03-07     Completed Date:  2001-06-07     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9806306     Medline TA:  Clin Chem Lab Med     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  935-8     Citation Subset:  IM    
Affiliation:
Department of Chemical Pathology, The Chinese University of Hong Kong, China. ppoon@cuhk.edu.hk
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MeSH Terms
Descriptor/Qualifier:
Asian Continental Ancestry Group / genetics
China / ethnology
European Continental Ancestry Group / genetics
Female
Fragile X Mental Retardation Protein
Fragile X Syndrome / genetics*
Hong Kong
Humans
Male
Mental Retardation / genetics*
Nerve Tissue Proteins / genetics*
RNA-Binding Proteins*
Random Amplified Polymorphic DNA Technique
Reference Values
Trinucleotide Repeats*
X Chromosome
Chemical
Reg. No./Substance:
0/FMR1 protein, human; 0/Nerve Tissue Proteins; 0/RNA-Binding Proteins; 139135-51-6/Fragile X Mental Retardation Protein

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


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