Author/Editor		Velikonja, Nevenka
Title		Vpliv prednostnega prenosa alelov na populacijsko genetiko bolezni trinukleotidnih zaporedij
Translated title		Influence of allele preferential transmission on population genetics of trinucleotide repeat diseases
Type		monografija
Place		Ljubljana
Publisher		Medicinska fakulteta, Biokemija in molekularna biologija
Publication year		1998
Volume		str. 74
Language		slo
Abstract		Trinucleotide repeat disease are neurological disorders caused by the expansion of trinucleotide repeats. Besides the common muttational mechanism, these disases also share the feature of anticipation and low rate of de novo mutations. Segregation distortion has been observed in some of the trinucleotide repeat diseases. This phenomenon could explain the contradiction between the constant and high prevalence of trinucleotide repeat diseases on one hand and anticipation and low rate of de novo mutations on the other. The segregation distortion or allele preferential transmission is usually the consequence of the meiotic drive mechanism. The aim of this study was the analysis of potential segregation distortion of trinucleotide repeat disease loci in the Slovene population. Since some studies of segreagation distortion in the MD locus have been published, we analysed the segregation of normal and mutant alleles of this locus, as well as HD, FRAXA and FRAXE loci. WE raised the quistion whether allele preferential transmission could play a role in the population genetics of trinucleotide repeat diseases. We analysed 209 families with DNA samples of at least two succeeding generations in our DNA bank. For the analysis of mutant allele preferential transmission, we analysed sixteen families with molecular genetic diagnosis of myotonic dystrophy, two families with Huntington's disease and nine families with fragile X syndrome. The DNA samples were analysed with PCR or Southern blot method. The segregation distortion in favour of mutant MD alleles was observed, when they were transmitted through mothers. However, the preferential transmission of mutant HD alleles was observed in male meioses. The results showed also the (CTG), allele preferential transmission of the MD locus in male meioses. In other analysed disease loci the segregation distortion was not observed.(Abstract truncated at 2000 characters.)
Descriptors		MYOTONIA ATROPHICA FRAGILE X SYNDROME HUNTINGTON'S DISEASE TRINUCLEOTIDE REPEATS ALLELES MUTATION DNA POLYMERASE CHAIN REACTION BLOTTING, SOUTHERN