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Title: Distribution of FMR-1 and associated microsatellite alleles in a normal Chinese population

Abstract

The CGG repeat size distribution of the fragile X mental retardation gene (FMR-1) was studied in a population of normal Chinese X chromosomes along with that of two proximal microsatellite polymorphic markers: FRAXAC1 and DXS548. The most common CGG repeat allele was 29 (47.2%) with 30 being second most common (26%). This distribution was different from that seen in Caucasian controls, where the most common allele was 30 repeats. Other differences with Caucasian controls included a secondary model peak at 36 repeats and the absence of peaks at 20 or 23 repeats. There were only two FRAXAC1 and five DXS548 alleles found in the Chinese sample. A striking linkage disequilibrium of FMR-1 alleles with FRAXAC1 alleles was observed, in that 90% of the 29 CGG repeat alleles but only 41% of the 30 CGG repeat alleles had the FRAXAC1 152 bp allele (18 AC repeats). This disequilibrium suggests that slippage between the closely spaced normal CGG repeat alleles, 29 and 30, and between 152 and 154 FRAXAC1 alleles is very rare. This study lays the groundwork for an understanding of founder chromosome effects in comparing Asian and Caucasian populations. 29 refs., 5 tabs.

Authors:
; ; ; ;  [1]; ;  [2]
  1. New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY (United States)
  2. Tongji Medical Univ., Wuhan (China)
Publication Date:
OSTI Identifier:
62051
Resource Type:
Journal Article
Journal Name:
American Journal of Medical Genetics
Additional Journal Information:
Journal Volume: 51; Journal Issue: 4; Other Information: PBD: 15 Jul 1994
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; HUMAN X CHROMOSOME; CHROMOSOMAL ABERRATIONS; CHINA; HUMAN POPULATIONS; HEREDITARY DISEASES; MENTAL DISORDERS; GENES; PHENOTYPE; POLYMERASE CHAIN REACTION

Citation Formats

Zhong, N, Houck, Jr, G E, Li, S, Dobkin, C, Brown, W T, Liu, Xixian, and Gou, Shen. Distribution of FMR-1 and associated microsatellite alleles in a normal Chinese population. United States: N. p., 1994. Web. doi:10.1002/ajmg.1320510423.
Zhong, N, Houck, Jr, G E, Li, S, Dobkin, C, Brown, W T, Liu, Xixian, & Gou, Shen. Distribution of FMR-1 and associated microsatellite alleles in a normal Chinese population. United States. https://doi.org/10.1002/ajmg.1320510423
Zhong, N, Houck, Jr, G E, Li, S, Dobkin, C, Brown, W T, Liu, Xixian, and Gou, Shen. 1994. "Distribution of FMR-1 and associated microsatellite alleles in a normal Chinese population". United States. https://doi.org/10.1002/ajmg.1320510423.
@article{osti_62051,
title = {Distribution of FMR-1 and associated microsatellite alleles in a normal Chinese population},
author = {Zhong, N and Houck, Jr, G E and Li, S and Dobkin, C and Brown, W T and Liu, Xixian and Gou, Shen},
abstractNote = {The CGG repeat size distribution of the fragile X mental retardation gene (FMR-1) was studied in a population of normal Chinese X chromosomes along with that of two proximal microsatellite polymorphic markers: FRAXAC1 and DXS548. The most common CGG repeat allele was 29 (47.2%) with 30 being second most common (26%). This distribution was different from that seen in Caucasian controls, where the most common allele was 30 repeats. Other differences with Caucasian controls included a secondary model peak at 36 repeats and the absence of peaks at 20 or 23 repeats. There were only two FRAXAC1 and five DXS548 alleles found in the Chinese sample. A striking linkage disequilibrium of FMR-1 alleles with FRAXAC1 alleles was observed, in that 90% of the 29 CGG repeat alleles but only 41% of the 30 CGG repeat alleles had the FRAXAC1 152 bp allele (18 AC repeats). This disequilibrium suggests that slippage between the closely spaced normal CGG repeat alleles, 29 and 30, and between 152 and 154 FRAXAC1 alleles is very rare. This study lays the groundwork for an understanding of founder chromosome effects in comparing Asian and Caucasian populations. 29 refs., 5 tabs.},
doi = {10.1002/ajmg.1320510423},
url = {https://www.osti.gov/biblio/62051}, journal = {American Journal of Medical Genetics},
number = 4,
volume = 51,
place = {United States},
year = {Fri Jul 15 00:00:00 EDT 1994},
month = {Fri Jul 15 00:00:00 EDT 1994}
}