COL1A2 gene (alpha 2 gene of type I collagen) at the haplotype level as a new valuable anthropogenetic marker: a study on Sardinians.

Sardinians, a population with many distinct anthropogenetic features, has been studied for the COLIA1 and COLIA2 genes at the DNA level for two purposes: to look for new RFLPs (restriction fragment length polymorphisms) and to study the distribution of three known COLIA2 RFLPs (EcoRI, RsaI, MspI) at both the allele and the haplotype levels. None of the eleven enzyme-probe systems examined led to the discovery of a new polymorphism. The following frequency q was found for the less common allele of the three RFLPs: EcoRI, q(+) = 0.

Glucose 6-phosphate dehydrogenase deficiency and cataract of patients in northern Sardinia.

We determined the activity level of glucose 6-phosphate dehydrogenase in 467 patients with cataract from northern Sardinia. Of 226 men, 18 (8%) had glucose 6-phosphate dehydrogenase deficiency. Of 241 women, 30 (12%) were heterozygous and two (1%) were homozygous for glucose 6-phosphate dehydrogenase deficiency.