Non-radioactive DNA diagnosis for the fragile X syndrome in mentally retarded Japanese males

Nanba, Eiji; Kohno, Y.; Matsuda, Atsue; Yano, Mitsue; Sato, Chikako; Hara, Kazuhiro; Koeda, Tatsuya; Yoshino, Kunio; Kimura, Masahiko; Maeoka, Yukinori; Yamamoto, Toshiyuki; Maegaki, Yoshihiro; Eda, I.; Takeshita, Kenzo

doi:10.1016/0387-7604(95)00031-6

Cited by 27 publications

(14 citation statements)

References 32 publications

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“…Our calculations thus confirm and extend several earlier reports that the frequency of premutation carriers differs for Asian as compared to non-Asian populations (see, e.g., Arinami et al, 1993;Hofstee et al, 1994;Nanba et al, 1995;Otsuka et al, 2010). Our analysis also yielded evidence that there is heterogeneity among non-Asian populations worldwide (adjusted p-value of 0.0014; Table 5), though at a lesser degree than that observed for Asian as compared to non-Asian populations, suggesting the possibility of variation at several geographic scales.…”

Section: Resultssupporting

confidence: 81%

“…Asian and non-Asian populations, in particular, have been reported to exhibit substantial differences, with markedly lower frequencies of premutation-and fullmutation carriers observed in Asian populations (Arinami et al, 1993;Hofstee et al, 1994;Nanba et al, 1995;Otsuka et al, 2010). Here we assess statistical evidence for frequency differences between these groups, using data from several published, general-population studies.…”

Section: Introductionmentioning

confidence: 99%

“…Several reports indicate differences among populations in the distribution of fragile X alleles into the normal, premutation and full-mutation size classes (see, for example, Arinami et al, 1993;Barros-Núñez et al, 2008;Hofstee et al, 1994;Nanba et al, 1995;Otsuka et al, 2010;Peprah et al 2010). Asian and non-Asian populations, in particular, have been reported to exhibit substantial differences, with markedly lower frequencies of premutation-and fullmutation carriers observed in Asian populations (Arinami et al, 1993;Hofstee et al, 1994;Nanba et al, 1995;Otsuka et al, 2010).…”

Section: Introductionmentioning

confidence: 99%

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Why do fragile X carrier frequencies differ between Asian and non-Asian populations?

Genereux

Laird

2013

Genes Genet. Syst.

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Asian and non-Asian populations have been reported to differ substantially in the distribution of fragile X alleles into the normal (< 55 CGG repeats), premutation (55-199 CGG repeats), and full-mutation (> 199 CGG repeats) size classes. Our statistical analyses of data from published general-population studies confirm that Asian populations have markedly lower frequencies of premutation alleles, reminiscent of earlier findings for expanded alleles at the Huntington's Disease locus. To examine historical and contemporary factors that may have shaped and now sustain allele-frequency differences at the fragile X locus, we develop a population-genetic/epigenetic model, and apply it to these published data. We find that founder-haplotype effects likely contribute to observed frequency differences via substantially lower mutation rates in Asian populations. By contrast, any premutation frequency differences present in founder populations would have disappeared in the several millennia since initial establishment of these groups. Differences in the reproductive fitness of female premutation carriers arising from fragile X primary ovarian insufficiency (FXPOI) and from differences in mean maternal age may also contribute to global variation in carrier frequencies.

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Section: Resultssupporting

confidence: 81%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Why do fragile X carrier frequencies differ between Asian and non-Asian populations?

Genereux

Laird

2013

Genes Genet. Syst.

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“…Molecular screening studies of Japanese MR subjects gave prevalences that varied between 0.8% to 2.7% [Hofstee et al, 1994;Nanba et al, 1995]. Applying molecular screening to 1,127 Chinese MR individuals, we have found an overall fragile X syndrome frequency of 2.8%.…”

Section: Discussionmentioning

confidence: 92%

Frequency of the fragile X syndrome in Chinese mentally retarded populations is similar to that in Caucasians

Zhong

et al. 1999

Am. J. Med. Genet.

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Fragile X syndrome is recognized as the most common inherited cause of mental retardation in western countries. The prevalence of the fragile X syndrome in Asian populations is uncertain. We report a multi-institutional collaborative study of molecular screening for the fragile X syndrome from 1,127 Chinese mentally retarded (MR) individuals. We found that 2.8% of the Chinese MR population screened by DNA analysis had the fragile X full mutation. Our screening indicated that the fragile X syndrome prevalence was very close to that of Caucasian subjects. In addition, we found that 62.5% of fragile X chromosomes had a single haplotype for DXS548-FRAXAC1 (21-18 repeats) which was present in only 9.7% of controls. This unique distribution of microsatellite markers flanking the FMR1 CGG repeats suggests that the fragile X syndrome in Chinese populations, as in the Caucasian, may also be derived from founder chromosomes.

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“…In some cases, ultrasound renogra-phy, MRI, and CT brain scan gave supportive evidence for the diagnosis. Genomic DNAs were prepared from the blood samples as described (Nanba et al 1995). Healthy Japanese volunteer DNA as normal controls were extracted by the Nucleic Acid Purification System (MagExtractor MFX-2000; Toyobo, Osaka, Japan) from 100µl blood.…”

Section: Patients and Sample Collectionmentioning

confidence: 99%

Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex

et al. 1999

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We have surveyed the mutations of TSC1 and TSC2 from 38 (25 sporadic, 11 familial, and 2 unknown) Japanese patients with tuberous sclerosis complex. In 23 of 38 subjects, we detected 18 new mutations in addition to 4 mutations that had been previously reported. We also found 3 new polymorphisms. The mutations were not clustered on a particular exon in either of the genes. Seven TSC1 mutations found in 3 familial and 4 sporadic cases were on the exons (3 missense, 2 nonsense point mutations, a 1-base insertion, and a 2-bp deletion). Fifteen TSC2 mutations were found in 5 familial cases, 10 sporadic cases, and 1 unknown case. The 12 mutations were on the exons (8 missense, 1 nonsense point mutations, a 1-bp insertion, a 5-bp deletion, and a 4-bp replacement) and 3 point mutations were on the exon-intron junctions. Although the patients with TSC2 mutations tend to exhibit relatively severe mental retardation in comparison to those with TSC1 mutations, a genotype-phenotype correlation could not yet be established. The widespread distribution of TSC1/TSC2 mutations hinders the development of a simple diagnostic test, and the identification of individual mutations does not provide the prediction of prognosis.

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Non-radioactive DNA diagnosis for the fragile X syndrome in mentally retarded Japanese males

Cited by 27 publications

References 32 publications

Why do fragile X carrier frequencies differ between Asian and non-Asian populations?

Why do fragile X carrier frequencies differ between Asian and non-Asian populations?

Frequency of the fragile X syndrome in Chinese mentally retarded populations is similar to that in Caucasians

Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex

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