Novel L558P mutation of the TGFBI gene found in Ukrainian families with atypical corneal dystrophy.

Purpose: To report a novel L558P mutation of the human transforming growth factor beta-induced (TGFBI) gene found in Ukrainian families with atypical corneal dystrophy (CD).

Methods: Genomic DNA was extracted from peripheral leukocytes of 12 members of 4 unrelated families with atypical CD. We performed genotype analysis of these families with microsatellite markers surrounding the TGFBI locus.

Analysis of CCR5Delta32 geographic distribution and its correlation with some climatic and geographic factors.

We studied the possible effects of climatic-geographic factors on the world distribution of the mutant allele for the chemokine receptor gene CCR5, which has a 32-bp deletion (CCR5Delta32) preventing cell invasion by the primary transmitting strain of HIV-1. New data on CCR5 polymorphisms in Russian, Ukrainian, and Moldavian populations are presented. All available data on CCR5Delta32 frequencies in the Old World (number of populations n = 77) were used for construction of a geographical gene map to analyze possible correlations between allele frequencies and eight climatic-geographic parameters.