Objectives: To describe a process of diagnosing familial hypercholesterolemia (FH) at the DNA level in selected family members of affected individuals. ## Design and Methods: A 63-year-old male patient presented with cholesterol elevations consistent with heterozygous familial hypercholesterolemi
The HGAR1 familial hypercholesterolemia pedigree
โ Scribed by Dr. Joan E. Bailey-Wilson; Robert C. Elston
- Book ID
- 102226126
- Publisher
- John Wiley and Sons
- Year
- 1993
- Tongue
- English
- Weight
- 144 KB
- Volume
- 10
- Category
- Article
- ISSN
- 0741-0395
No coin nor oath required. For personal study only.
โฆ Synopsis
Data on 232 members of a single pedigree, descended from two pairs of original parents, were made available to the participants of Genetic Analysis Workshop 8 (GAWS). In addition to information concerning age and sex, measurements for 10 quantitative traits and genotypes at 22 polymorphic marker loci were also provided for a subset of 193 of these family members. 1993 Wiley-Liss, Inc.
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Sib-pair linkage analysis was used to screen a large pedigree, ascertained through four members with hypercholesterolemia, for evidence of linkage between 12 quantitative traits and 15 genetic marker loci. Traits were analyzed on the untransformed, natural log and square root-transformed scales. Aft
The role of genetic and environmental factors in determining the variability in plasma lipoprotein(a) [Lp(a)] levels was investigated in 220 members of 14 families with familial hypercholesterolemia (FH) whose plasma Lp(a) levels were previously reported [Leitersdorf et al. (1 99 1) J Lipid Res 32: