A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3

Article Abstract:

A gene for autosomal recessive spondylocostal dysostosis (SD), a disorder in which vertebral-segmentation defects and rib anomalies are associated, maps to 19q13.1-q13.3. Short trunk and stature result as do other problems. The disorder can be familial and has been reported with both autosomal and dominant and autosomal recessive (AR) inheritance. Genomewide scanning was carried out in a large consanguineous ARSD Arab Israeli family which has six definitely affected members, and confirmation involved a second family, one of Pakistani descent, with three affected members.

United Kingdom, Israel, Usage, Bones, Abnormalities, Chromosome mapping, Genetic disorders, Ribs, Spine, Dysostosis

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Mitochondrial haplogroup N9a confers resistance against type 2 diabetes in Asians

Article Abstract:

A large-scale association study is performed to identify mitochondrial haplogroups that might confer resistance against or susceptibility to type 2-diabetes mellitus (T2DM) in Asians. Multivariate logistic-regression analysis has indicated that the mitochondrial haplogroup N9a is associated with resistance against T2DM with an odds ratio of 0.55.

Science & research, Asia, Type 2 diabetes, Mitochondrial DNA, Insulin resistance, Report

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