Candidate-gene studies of the atherogenic lipoprotein phenotype: a sib-pair linkage analysis of DZ women twins

Article Abstract:

Genetic linkage of LDL size, RB and related atherogenic lipoproteins and candidate genes involved in lipid metabolism have been investigated. analysis of linkage. Small, dense LDL and plasma triglyceride (TG) have roles as coronary heart disease risk factors according to increasing evidence. Family and twin studies show genetic influences on risk factors, but specific genes have not been found. Analysis of linkage involved a sample of 126 DZ women twin pairs to avoid possible confounding from gender and age. The approach was a quantitative sib-pair linkage-analysis one. It appears that genetic linkage exists between markers for the apo B gene and LDL size. Linkage also exists for plasma levels of HDL cholesterol, of TG and of apo G. Linkage between the MTP gene and TG was found for all females tested. It seems there genetic influence of the atherogenic lipoprotein phenotype and the ways it is a factor in genetic susceptibility to atherosclerosis.

Health aspects, Women, Risk factors, Women's health, Low density lipoproteins, Atherosclerosis, Triglycerides

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Founder effect at PGL1 in hereditary head and neck paraganglioma families from the Netherlands

Article Abstract:

PGL1 is a gene responsible for hereditary paragangliomas of the neck and head. It was recently mapped to a 2-cM interval on chromosome 11q22-q23 using a large group in the Netherlands. Linkage and haplotype-sharing analysis was carried out on a large multibranch family. Evidence for existence of a common ancestor is strong, but kinship was not found for the families despite genealogical studies going back to 1800 AD. A single ancestral mutation is responsible for most of the hereditary paragangliomas in one geographic region and strong founder effects may be at the PGL1 locus.

Research, Neurogenetics, Nervous system tumors, Head and neck tumors

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Noninvasive test for fragile X syndrome, using hair root analysis

Article Abstract:

A noninvasive 5-hour hair-root-analysis test has been developed for fragile X syndrome in males. The test depends on lack of the FMR1 (ital) gene product (FMRP) in cells. In female patients with full mutation, FMRP is expressed in some hair roots, less than 55%. There is no overlap with normal female controls.

Analysis, Diagnosis, Hair, Fragile X syndrome, Hair manifestations of general diseases, Hair manifestations

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