Comprehensive human genetic maps: individual and sex-specfic variation in recombination

Article Abstract:

Comprehensive genetic maps have been constructed using nearly 1 million genotypes from eight CEPH families. Over 8000 short tandem-repeat polymorphisms are included. Average lengths of the final maps were 44 morgans for females, 27 for males and 35 for the average of both sexes. The eight mothers of the CEPH families differed significantly in the total number of recombinant events per meiosis. The female:male ratio of genetic distance peaked consistently at the centromeres of all metacentric chromosomes.

Human genetics, Genetic recombination, Chromosome mapping

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CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis

Article Abstract:

A new cohort of 52 families is ascertained and a follow up study of genomewide scans is conducted that produced evidence of linkage and association with 8q12 loci. The study also shows the evidence of disease-associated haplotypes centering over exons 2-4 of the CHD7 gene associated with the coloboma of the eye, heart defects, atresia of the choanae, retardation of growth and genital or urinary abnormalities.

United States, Science & research, Causes of, Risk factors, Genetic aspects, Mental retardation, Scoliosis, Pedigree analysis

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