The AGG interruption pattern within the CGG repeat of the FMR1 gene among Taiwanese population

Chiu, Hua-Hsien; Tseng, Yi-Ting; Hsiao, Hui‐Pin; Hsiao, Hui-Hua

doi:10.1007/s12041-008-0043-1

Cited by 10 publications

(15 citation statements)

References 14 publications

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“…10-A-9-A-9 was the most common allele for all populations except in the African American, Asia, Indonesia, and Malay, Borneo, and Tibet cohort where 9-A-9-A-9 was the most common pattern. The frequency of the 9-A-9-A-9 pattern in Asian ethnic groups was consistent with what has previously been shown (17,40), and in the African American group the 9-A-9-A-9 pattern was only 1% higher in frequency than the 10-A-9-A-9 pattern. It is unknown whether these two patterns have a biological advantage, however, CGG repeat length in the normal allele has been shown to alter translational efficiency (47) with the highest translational efficiency occurring at 30 CGG repeats.…”

Section: Discussionsupporting

confidence: 91%

Distribution of AGG interruption patterns within nine world populations

Yrigollen

Sweha

Durbin‐Johnson

et al. 2014

IRDR

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The CGG trinucleotide repeat within the FMR1 gene is associated with multiple clinical disorders, including fragile X-associated tremor/ataxia syndrome, fragile X-associated primary ovarian insufficiency, and fragile X syndrome. Differences in the distribution and prevalence of CGG repeat length and of AGG interruption patterns have been reported among different populations and ethnicities. In this study we characterized the AGG interruption patterns within 3,065 normal CGG repeat alleles from nine world populations including Australia, Chile, United Arab Emirates, Guatemala, Indonesia, Italy, Mexico, Spain, and United States. Additionally, we compared these populations with those previously reported, and summarized the similarities and differences. We observed significant differences in AGG interruption patterns. Frequencies of longer alleles, longer uninterrupted CGG repeat segments and alleles with greater than 2 AGG interruptions varied between cohorts. The prevalence of fragile X syndrome and FMR1 associated disorders in various populations is thought to be affected by the total length of the CGG repeat and may also be influenced by the AGG distribution pattern. Thus, the results of this study may be important in considering the risk of fragile X-related conditions in various populations

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Section: Discussionsupporting

confidence: 91%

Distribution of AGG interruption patterns within nine world populations

Yrigollen

Sweha

Durbin‐Johnson

et al. 2014

IRDR

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“…These common alleles were also observed as most common in other West African populations including the Bamileke (Chiurazzi et al , 1996a) Wolof, Mandinka (Kunst et al , 1996) and Mbuti pygmy of Central Africa (Eichler & Nelson, 1996b). Similarly in other world populations, 30 and 29 repeats were the most common in Caucasians (Malmgren et al , 1994a, Haataja et al , 1994, Kunst et al , 1996, Chiurazzi et al , 1996b), South Americans comprising Brazilians with varied ancestry (Mingroni-Netto et al , 2002), Chilean populations (Jara et al , 1998), several Asian populations including Chinese, Malays (Zhou et al , 2006) and Taiwanese (Chiu et al , 2008). However, this pattern is not always the case: in a Japanese sample, 27 repeat alleles were the most common (Otsuka et al , 2009) and in a Mexican sample, 32 repeats were the most common (Rosales-Reynoso et al , 2005), However these populations also contained the 30 and 29 peaks in lower frequencies.…”

Section: Discussionmentioning

confidence: 61%

Genetic Diversity of the Fragile X Syndrome Gene (FMR1) in a Large Sub‐Saharan West African Population

Peprah

Allen

Williams

et al. 2010

Annals of Human Genetics

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Fragile X-associated disorders (FAD) are caused by the expansion of a CGG trinucleotide repeat found in the 5′ untranslated region of the X-linked FMR1 gene. Although examinations of characteristics associated with repeat instability and expansion of the CGG repeat upon transmission from parent to offspring has occurred in various world populations, none has been conducted in large Sub-Saharan African populations. We have examined the FMR1 CGG repeat structure in a sample of general population males drawn from Ghana. We found that Ghanaians and African Americans have similar allele frequency distributions of CGG repeat and its flanking STR markers, DXS548 and FRAXAC1. However, the distribution of the more complex marker, FRAXAC2, is significantly different. The haplotype structure of the FMR1 locus indicated that Ghanaians share several haplotypes with African Americans and Caucasians that are associated with the expanded full mutation. In Ghanaians, the majority of repeat structures contained two AGG interruptions, however, the majority of intermediate alleles (35-49) lacked AGG interruptions. Overall, we demonstrate that allelic diversity of the FMR1 locus among Ghanaians is comparable to African Americans, but includes a minority of CGG array structures not found in other populations.

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“…; Chiu et al. ). Because the 9 + 9 + 9 pattern was the most common and putative ancestral structure in Asians, it has been proposed that the insertion of (CGG) 6 AGG mainly occurs on the 9 + 9 + 9 pattern, producing the basic structure 9 + 9 + 6 + 9 that was prevalent in Asians (Chen et al.…”

Section: Discussionmentioning

confidence: 98%

“…; Chiu et al. ). The observations indicate that the insertion of (CGG) 6 AGG may occur on a number of distinct CGG repeat patterns.…”

Section: Discussionmentioning

confidence: 98%

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Distribution of fragile X mental retardation 1 CGG repeat and flanking haplotypes in a large Chinese population

Huang

Xia

Luo

et al. 2014

Molec Gen & Gen Med

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Fragile X syndrome is mainly caused by a CGG repeat expansion within the 5′ UTR of the fragile X mental retardation 1 (FMR1) gene. Previous analyses of the FMR1 CGG repeat patterns and flanking haplotypes in Caucasians and African Americans have identified several factors that may influence repeat instability. However, the CGG repeat patterns and distribution for FRAXAC2 have not yet been investigated in mainland Chinese. We surveyed the CGG repeat lengths in 1113 Han Chinese (534 males and 579 females), and the CGG repeat patterns of 534 males were determined by sequence analysis. We also explored the flanking haplotypes (DXS548-FRAXAC1-FRAXAC2) in 566 unaffected and 28 unrelated fragile X Chinese males. The most frequent alleles for DXS548 and FRAXAC1 were identical between our Chinese population and other Asian populations. We identified several low-abundance alleles for DXS548 and FRAXAC1 not found in previous studies in mainland Chinese and Taiwanese cohorts. The most frequent allele was (CGG)29 followed by (CGG)30, and the most frequent patterns were 9 + 9 + 9, 10 + 9 + 9, and 9 + 9 + 6 + 9, similar to those in Singaporeans. We identified only one premutation female carrier with 89 CGG repeats in the 1113 Han Chinese. A few associations between the CGG repeat patterns and flanking haplotypes were determined in this study. In general, the Chinese population had a smaller number of alleles and lower expected heterozygosity for all three STR markers and FRAXA locus when compared with Caucasians and African Americans. We identified a novel haplotype 7-3-5 + that is significantly associated with the full mutation.

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The AGG interruption pattern within the CGG repeat of the FMR1 gene among Taiwanese population

Cited by 10 publications

References 14 publications

Distribution of AGG interruption patterns within nine world populations

Distribution of AGG interruption patterns within nine world populations

Genetic Diversity of the Fragile X Syndrome Gene (FMR1) in a Large Sub‐Saharan West African Population

Distribution of fragile X mental retardation 1 CGG repeat and flanking haplotypes in a large Chinese population

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