Clinical Chemistry Email Content Delivery
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

Clinical Chemistry 46: 1183-1185, 2000;
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Submit an electronic Letter to
the Editor about this paper
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via ISI Web of Science (2)
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Ashavaid, T. F.
Right arrow Articles by Nair, K. G.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Ashavaid, T. F.
Right arrow Articles by Nair, K. G.
Related Collections
Right arrow Molecular Diagnostics and Genetics
(Clinical Chemistry. 2000;46:1183-1185.)
© 2000 American Association for Clinical Chemistry, Inc.

Technical Briefs

Identification of Two LDL-Receptor Mutations Causing Familial Hypercholesterolemia in Indian Subjects by a Simplified Rapid PCR-Heteroduplex Method

Tester F. Ashavaid1,a, Altaf A. Kondkar1 and Kappiareth G. Nair2

1 Research Laboratory, P. D. Hinduja National Hospital & Medical Research Center, Mumbai 400 016, India

2 Breach Candy Hospital & Research Center, Mumbai 400 026, India
a author for correspondence: fax 91-22-4449151, e-mail dr_tashavaid@hindujahospital.com

The molecular analysis of familial hypercholesterolemia (FH), an autosomal dominant disease caused by a multitude of LDL receptor (LDLR) gene mutations, is complicated by mutational heterogeneity of the disease in the majority of population studied to date (1). Exceptions occur where the frequencies of specific mutations are increased in a population because of founder effects, or where a mutation has been introduced on many occasions into a small isolated community (2)(3)(4). The prevalence of FH in India is not known. In addition, to the best of our knowledge there are no published reports on systematic analyses of mutations underlying FH in India. However, to date 10 different LDLR mutations in immigrants from India have been reported in the literature (5). Most of these mutations have been reported in exons 3, 4, 9, and 14 among Indians settled in South Africa, which suggests an increased frequency of FH in India (5). More than 80% of the 150 000 Indians who immigrated to South Africa between 1860 and 1911 originated from diverse areas in India (6). This group has remained isolated as a whole and also within different communities, primarily as a result of religious and cultural practices. This probably indicates that the increased incidence of mutations is attributable to multiple entries of defective LDLR genes into the Indian population of South Africa from India and that the group in South Africa probably represents the incidence in the Indian subcontinent.

The current study . . . [Full Text of this Article]


References






HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 2000 by the American Association for Clinical Chemistry.