Journal ArticleDOI
DNA polymorphisms, identified by an X-chromosome short-arm probe L 1.28 (DXS7), in different racial groups.
TLDR
Restriction fragment length polymorphisms of the L1.28 probe, which is closely linked to X-linked disorders, retinitis pigmentosa and Norrie disease, were studied in samples from England, India and Nigeria.Abstract:
Restriction fragment length polymorphisms of the L1.28 probe which is closely linked to X-linked disorders, retinitis pigmentosa and Norrie disease, were studied in samples from England, India and Nigeria. The frequency of the A2 allele (9-kb fragment) was 0.23, 0.55 and 0.46 in England, India and Nigeria, respectively. The differences between the English and Indian populations were highly significant.read more
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Genetic variation in India.
TL;DR: Three distinct surveys reported here indicate that geographic proximity, ethnohistory, and biosocial and cultural affiliation are important determinants of genetic affinity in populations of India.
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Ocular findings associated with a Cys39Arg mutation in the Norrie disease gene.
TL;DR: Ophthalmoscopy and electroretinography could not identify carriers of this Norrie disease mutation and single-strand conformation polymorphism analysis was more sensitive and specific than linkage analysis in identifying carriers in this family.
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Wiskott-Aldrich syndrome carrier detection with the hypervariable marker M27β
G de Saint Basile,Lucia Dora Notarangelo,Catherine Bonaïti-Pellié,M. Doussau,O. Prolini,Ian W. Craig,Alberto G. Ugazio,Claude Griscelli,Anne-Marie Fischer +8 more
TL;DR: The use of M27β, for both X-inactivation and segregation analysis of WAS kindreds, provides a basis for genetic counselling in the majority of families, including those with no surviving males.
Journal ArticleDOI
Population variation in molecular polymorphisms of the short arm of the human X chromosome.
Surinder S. Papiha,Sarabjit S. Mastana,Derek F. Roberts,G. C. Onyemelukwe,Shomi S. Bhattacharya +4 more
TL;DR: Five DNA probes from the short arm of the human X chromosome were investigated in samples from five populations (English, Nigerian, Chinese, Muslim, and Hindu from India) and there is an interesting suggestion of longitudinal cline for allele *2 detected with probe L1.28.
Journal ArticleDOI
Population frequencies of three DNA alleles linked to the Duchenne muscular dystrophy gene.
Surinder S. Papiha,Derek F. Roberts,Angus John Clarke,John Burn,D. Gardner-Medwin,Shoumo Bhattacharya +5 more
TL;DR: To enquire whether the known X linked probes linked to the Duchenne muscular dystrophy gene vary in their RFLP frequencies, three probes were tested in European, Indian Muslim, and West African samples and significant differences in allele frequencies were evident.