Restriction fragment length polymorphisms on the short arm of X chromosome among the Japanese population

Shimmoto, Michie; Tsuji, Akihiko; Suzuki, Yoshiyuki

doi:10.1007/bf02032863

Cited by 6 publications

(4 citation statements)

References 16 publications

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“…The allele frequencies in the pERT87 locus detected with three combinations of primer and enzyme sets were well comparable to those previously reported for Japanese and Chinese females (Akita et al, 1987;Shimmoto et al, 1988;Sugino et aL, 1989;Fujishita et aL, 1991;Soong et aL, 1991). However, they were quite different from those in the Caucasian, Spanish, Indian and black populations (Kunkel et al, 1985(Kunkel et al, , 1986Lindlof et aL, 1987;Schwartz and Barjon, 1987;Roberts et al, 1989;Gokgoz et aI., 1993;A1-Maghtheh et al, 1993).…”

Section: Discussionsupporting

confidence: 89%

Allele frequencies of intragenic, and 5′ and 3′ markers of the dystrophin gene in Japanese families afflicted with Duchenne or Becker muscular dystrophy

et al. 1996

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SummaryUsing the polymerase chain reaction method (PCR), we examined the allele frequencies and heterozygosities of 7 polymorphic sites (pERT87, and CA polymorphisms in the 5' and 3' regions) of the dystrophin gene in 20 Japanese Duchenne muscular dystrophy and Becker muscular dystrophy (DMD or BMD) families consisting of 36 males, including 23 cases of DMD and BMD, and 28 females. The allele frequencies of three primer and enzyme sets in the pERT87 locus were well comparable to those in the previously reported Japanese female cases but different from in other countries. The frequencies of 5' markers of the dystrophin gene in Japanese were different from the reported Caucasian frequencies. As for 5'DYS-I and 5'DYS-II, the numbers of alleles in our cases were less than in Caucasians, and the heterozygosities of all three markers (5'DYS-I, II and IiI) were lower than in Caucasians. However, the 3'CA polymorphisms showed almost the same frequencies and heterozygosities as in Caucasians. All of our females showed a heterozygous pattern for at least one locus, with the combination of the seven markers. The usefulness of linkage analysis involving PCR methods with these intragenic, and 5' and 3' markers of the dystrophin gene in the carrier and prenatal diagnosis of DMD and BMD was confirmed by the successful prenatal diagnoses in 15 fetuses, the exception being one case considered to have a new mutation.

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Section: Discussionsupporting

confidence: 89%

Allele frequencies of intragenic, and 5′ and 3′ markers of the dystrophin gene in Japanese families afflicted with Duchenne or Becker muscular dystrophy

et al. 1996

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“…In another African population of Nigeria, an A*2 allele frequency of 46% has been reported [3]. The /I*2 allele frequency in our Chinese sample is similar to the value observed in Thais (30%), but recently a higher value of 45% has been reported in the Japanese population [6].…”

Section: 017supporting

confidence: 60%

X Chromosome Restriction Fragment Length Polymorphisms in Five Racial Groups: Rare Variant Detected with the RC8 (DXS9) Probe in the Marathi Population, India

Wadhwa

Papiha

Lester³

et al. 1989

Hum Hered

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Restriction fragment length polymorphisms were investigated in five racial groups using the X chromosome probes DXS9 and DXS7. The allele frequencies of these polymorphisms showed significant differences and both DNA fragments were found to be highly polymorphic in the populations of south and southeast Asia. In the Marathi population of India, a rare allele B*3 (3 kilobases; kb) and an altered 7-kb fragment instead of the 6.6-kb constant band were found with DXS9. This is the first time that the rare B*3 allele is found in a non-European population.

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“…No polymorphisms were found for probes pG95al-7dIII/RI, pXG-16 (TaqI), p8, and pXG-17. Shimmoto et al (1988) reported no polymorphisms in Japanese for one probe (pD2, DXS43) among 9 they studied. We also found no polymorphisms RFLP probes for X chromosome so far studied in Japanese.…”

Section: Resultsmentioning

confidence: 91%

“…Shimmoto et al (1988) studied DNA probes detecting polymorphisms on the short arm of X chromosome and found that one of the probes (pD2, DXS43) did not show any polymorphisms among the Japanese. We examined DNA probes for the distal end of the long arm of X chromosome and found no HindIII polymorphism for the probe p114.12 (F8C) in Japanese subjects (Taga et aI., 1989).…”

Section: Introductionmentioning

confidence: 99%

Restriction fragment length polymorphisms of X chromosome among Japanese population

et al. 1989

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SummaryRestriction fragment length polymorphisms were studied among the Japanese using 13 polymorphic DNA probes on the X chromosome. For 6 probes (pPA4B, cpX203, p58-1, pHPGK-7e, cpX289 and 7b) the allelic frequencies were the same as those for Caucasians, but they were quite different (p < 0.01) for 4 probes (dic56, pOTC (MspI), pTAK8B and pXG-16 (HindlII)). No polymorphisms were observed for 4 probes (pG95M-7dIII/RI (n (chromosome number studied)--54), pXG-16 (TaqI) (n=50), p8 (n=108), and pXG-17 (n=76). These results suggest that not a small number of DNA probes currently available are useless for linkage analysis in Japan.

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Restriction fragment length polymorphisms on the short arm of X chromosome among the Japanese population

Cited by 6 publications

References 16 publications

Allele frequencies of intragenic, and 5′ and 3′ markers of the dystrophin gene in Japanese families afflicted with Duchenne or Becker muscular dystrophy

Allele frequencies of intragenic, and 5′ and 3′ markers of the dystrophin gene in Japanese families afflicted with Duchenne or Becker muscular dystrophy

X Chromosome Restriction Fragment Length Polymorphisms in Five Racial Groups: Rare Variant Detected with the RC8 (DXS9) Probe in the Marathi Population, India

Restriction fragment length polymorphisms of X chromosome among Japanese population

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