Parental origin-dependent, male offspring-specific transmission-ratio distortion at loci on the human X chromosome

Article Abstract:

Transmission of maternal alleles at loci going the length of the X chromosome have been analyzed in 47 normal, genetic disease-free families. A significant deviation from the expected Mendelian 1:1 ratio of grandmaternal:grandpaternal alleles was found in males at loci in Xp11.4-p21.1. The distortion in inheritance ratio was manifested as a strong bias in favor of the inheritance of the alleles of the maternal grandfather. No evidence for significant heterogeneity was found and it seems the major determinant involved in the generation of the non-Mendelian ratio is epigenetic.

Males

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Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome

Article Abstract:

Mapping of a new Simpson-Golabi-Behmel syndrome (SGBS) locus to chromosome Xp22 has been carried out in a family with a severe form of the syndrome an X-linked overgrowth syndrome with visceral/skeletal abnormalities associated. Not all of those with SGBS have demonstrated disruptions of the glypican-3 gene (GPB3) locus. Alterations in this gene, located on Xq26, are implicated in etiology of the more mild forms of the disorder. A second SGBS locus is on Xp22. The mapping project used 25 simple tandem-repeat polymorphism markers all across the X chromosome.

Canada, Statistical Data Included, Pediatric diseases, Intestines, Skeleton, Syndromes in children, Syndromes

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Autosomal genomic scan for loci linked to obesity and energy metabolism in Pima Indians

Article Abstract:

An autosomal genomic scan for loci linked to energy metabolism and obesity has been carried out for Pima Indians, a group with a tendency to obesity. Possible candidate genes were found. In 220 siblings with measurement of energy metabolism and in 362 siblings with measurements of body composition, 516 microsatellite markers with median spacing of 6.4 cM were analyzed, making 451 sib pairs in 127 nuclear families analyzed for linkage to obesity and 236 sib pairs in 82 nuclear families for linkage to energy metabolism.

Obesity, Energy metabolism, Genetics, Pimas

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