FRAXAC1 and DXS548 polymorphisms in the Chinese population

The fragile X syndrome is the most common inherited form of mental retardation. Haplotype studies using FRAXAC1 and DXS548 polymorphic markers flanking the fragile site have demonstrated linkage disequilibrium at the FMR1 locus. We investigated the association of the FRAXAC1, DXS548 and CGG alleles...

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Bibliographic Details
Published in:American journal of medical genetics 1999-05, Vol.84 (3), p.208-213
Main Authors: Poon, Priscilla M.K., Pang, C.P., Chen, Qian L., Zhong, Nan, Lai, Kelly Y.C., Lau, C.H., Wong, C.K., Brown, W. Ted
Format: Article
Language:English
Subjects:
Alleles
China
DXS548
Female
Fragile X Mental Retardation Protein
Fragile X Syndrome - genetics
FRAXAC1
Genetics, Population
Haplotypes
Humans
Male
mental retardation
Nerve Tissue Proteins - genetics
Polymorphism, Genetic - genetics
RNA-Binding Proteins
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Summary:The fragile X syndrome is the most common inherited form of mental retardation. Haplotype studies using FRAXAC1 and DXS548 polymorphic markers flanking the fragile site have demonstrated linkage disequilibrium at the FMR1 locus. We investigated the association of the FRAXAC1, DXS548 and CGG alleles between normal subjects and mentally retarded (MR) patients of unspecified cause who do have fragile X syndrome. We have evaluated the FRAXAC1 site in 390 normal subjects and 321 MR patients and the DXS548 site in 146 normal and 319 MR subjects. Both FRAXAC1 and DXS548 alleles were determined by application of the polymerase chain reaction. When compared with Caucasians, the normal Chinese population has a different FRAXAC1 allele distribution. There are more AC18 repeat alleles and fewer AC19 repeat alleles. The DXS548 allele distributions were similar between Chinese and Caucasians. The same distribution pattern of FRAXAC1 alleles was found in both normal subjects and MR patients, but there were significant differences in the distribution patterns of DXS548 alleles. The FMR1 CGG‐DXS548 and FRAXAC1‐DXS548 haplotype distribution between normal subjects and MR patients also differed significantly. Our results suggest a possible association between DXS548 alleles and non‐FRAXA mental retardation. Am. J. Med. Genet. 84:208–213, 1999. © 1999 Wiley‐Liss, Inc.
ISSN:0148-7299
1096-8628
DOI:10.1002/(SICI)1096-8628(19990528)84:3<208::AID-AJMG8>3.0.CO;2-C