Rapid restriction fragment analysis for screening four point mutations of the Low-density lipoprotein receptor gene in French Canadians
✍ Scribed by Marie-Claude Vohl; Patrick Couture; Sital Moorjani; Ana L. Torres; Claude Gagné; Jean-Pierre Després; Paul- J. Lupien; Fernand Labrie; Jacques Simard
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 373 KB
- Volume
- 6
- Category
- Article
- ISSN
- 1059-7794
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✦ Synopsis
Communicated by Lnp.chee Tsui
Familial hypercholesterolemia (FH) has an estimated frequency of 1:154 among French Canadians in Northeastern Quebec, compared with 1:500 in most other populations. FH is caused by numerous mutations of the low-density lipoprotein (LDL) receptor gene, but only six well-chancterized mutations are known to cause FH in French Canadians. High prevalence of the phenotype, along with a limited number of mutations in this population, provides a unique opportunity to study genotypephenotype variation. Since the current methods for detection of point mutations in this population use complicated approaches, we report polymerase cham reaction (PCR)-based restriction fragment analysis to detect all four point mutations. This approach provides a rapid diagnosis and is suitable to screen large number of samples for studies in genetic epidemiology; it should be useful in identifying FH in other populations bearing the same mutations. Q 1995 Wiley-Lisa, IM.