Background: Major population movements, social structure, and caste endogamy have influenced the genetic structure of Indian populations. An understanding of these influences is increasingly important as gene mapping and case-control studies are initiated in South Indian populations.
Four families were selected randomly on the basis of the occurrence of spina-bifida cystica and/or spina bifida occulta in one or more family members. Sixty-three relatives were studied clinically and roentgenologically; their roentgenograms were evaluated blindly. Twenty-eight were clinically and roentgenologically normal; 35 were diagnosed as having spina bifida occulta (SBO), spina bifida cystica (SBC), vertebral anomalies, and/or external defects usually interpreted as evidence for SBO. Excluding one proband we found the frequency of SBO to be 19/51 (37%) and the frequency of all types of spinal/vertebral defects (excluding five probands) to be 30/58 (52%). The distribution of these defects in the four families was analyzed using likelihood methods corrected for random ascertainment. The log likelihood values for sporadic, recessive, and dominant models were -26.69, -20.95, and -18.90, respectively, indicating a higher likelihood of autosomal dominant inheritance than sporadic occurrence or recessive inheritance. The penetrance probability in this dominant model, estimated by maximum likelihood, is 0.749 +/- 0.100. Further examination of these data suggest that SBO and SBC represent different expressions of the same dominant gene in these kindreds.
ErratumErratum to: Genetic adaptation to extreme hypoxia: Study of high-altitude pulmonary edema in a three-generation Han Chinese family [Blood Cells Mol. Dis. 43:3 (2009) The SNP positions were incorrectly annotated for the genome-wide SNP analysis. Reanalysis of the appropriate SNP positions indicates that none of the genes are associated with the reported phenotype, and we retract the statement that HIF2A could not be excluded based upon patterns of haplotype analysis and wish to remove the supplementary table.
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