Publication: Unique AGG interruption in the CGG repeats of the FMR1 gene exclusively found in asians linked to a specific SNP haplotype
Issued Date
2016-01-01
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20903162
20903154
20903154
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2-s2.0-85010856686
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Mahidol University
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SCOPUS
Bibliographic Citation
Genetics Research International. Vol.2016, (2016)
Suggested Citation
Pornprot Limprasert, Janpen Thanakitgosate, Kanoot Jaruthamsophon, Thanya Sripo Unique AGG interruption in the CGG repeats of the FMR1 gene exclusively found in asians linked to a specific SNP haplotype. Genetics Research International. Vol.2016, (2016). doi:10.1155/2016/8319287 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/43206
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Title
Unique AGG interruption in the CGG repeats of the FMR1 gene exclusively found in asians linked to a specific SNP haplotype
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Abstract
© 2016 Pornprot Limprasert et al. Fragile X syndrome (FXS) is the most common inherited intellectual disability. It is caused by the occurrence of more than 200 pure CGG repeats in the FMR1 gene. Normal individuals have 6-54 CGG repeats with two or more stabilizing AGG interruptions occurring once every 9- or 10-CGG-repeat blocks in various populations. However, the unique (CGG)6AGG pattern, designated as 6A, has been exclusively reported in Asians. To examine the genetic background of AGG interruptions in the CGG repeats of the FMR1 gene, we studied 8 SNPs near the CGG repeats in 176 unrelated Thai males with 19-56 CGG repeats. Of these 176 samples, we identified AGG interruption patterns from 95 samples using direct DNA sequencing. We found that the common CGG repeat groups (29, 30, and 36) were associated with 3 common haplotypes, GCGGATAA (Hap A), TTCATCGC (Hap C), and GCCGTTAA (Hap B), respectively. The configurations of 9A9A9, 10A9A9, and 9A9A6A9 were commonly found in chromosomes with 29, 30, and 36 CGG repeats, respectively. Almost all chromosomes with Hap B (22/23) carried at least one 6A pattern, suggesting that the 6A pattern is linked to Hap B and may have originally occurred in the ancestors of Asian populations.