Mutation and association analysis of the PVR and PVRL2 genes in patients with non-syndromic cleft lip and palate

Orofacial clefts (OFC; MIM 119530) are among the most common major birth defects. Here, we carried out mutation screening of the PVR and PVRL2 genes, which are both located at an OFC linkage region at 19q13 (OFC3) and are closely related to PVRL1, which has been associated with both syndromic and non-syndromic cleft lip and palate (nsCLP). We screened a total of 73 nsCLP patients and 105 non-cleft controls from the USA for variants in PVR and PVRL2, including all exons and encompassing all isoforms. We identified four variants in PVR and five in PVRL2. One non-synonymous PVR variant, A67T, was more frequent among nsCLP patients than among normal controls, but this difference did not achieve statistical significance

Genetic diversity and geographic variation of chromosomal races of Nannospalax xanthodon (Nordmann, 1840) and Nannospalax ehrenbergi (Nehring, 1898) from Turkey, revealed by RAPD analysis

The level of genetic polymorphism in chromosomal races of Nannospalax xanthodon and Nannospalax ehrenbergi was determined by applying random amplified polymorphic DNA (RAPDs) analysis. One hundred and fifty four mole rat samples belonging to two species N. xanthodon (61 populations) and N. ehrenbergi (3 populations) distributed in Anatolia were studied. Remarkable variations of diploid chromosome numbers were identified for N. xanthodon (2n=36 - 60). Eleven RAPD-PCR primers generated 160 polymorphic loci. The mean proportion of polymorphic loci was 92% (147 bands) for all chromosomal race implying high levels of genetic variability in N. xanthodon and N. ehrenbergi. Estimation of genetic diversity based on PCR amplification of RAPDs was high for both species. Results of RAPD- PCR observed within and among species were also connected with the peripatric mode of speciation. We determined that RAPD bands showed high diagnostic value between chromosomal races as they were very distinctive for each chromosomal race and absent from other forms. Genetic distance (Ds) values between chromosomal races suggest that most populations analyzed in this study may be valid biological species

Allozyme variations in Anatolian populations and cytotypes of the blind mole rats (Nannospalax)

Enzymatic proteins encoded by 28 putative loci in 326 samples of 12 mol rat cytotypes collected from 97 localities in Anatolia were investigated by standard horizontal starch-gel electrophoresis. A total of 61 alleles were determined for 28 isozyme loci and 23 of the 28 were polymorphic. Eight of the 23 polymorphic loci were agreeable to the Hardy-Weinberg equilibrium. It was determined that deviations from the Hardy-Weinberg equilibrium in the examined populations were due to a heterozygote deficiency. It was revealed by allozyme analyses that mole rat populations in Anatolia have formed 4 cytotypes groups, represented by 4 species (Nannospalax xanthodon, Nannospalax ehrenbergi, N. cilicicus, and N. nehringi). Cytotypes in western Anatolia (2n=36, 2n=38, 2n=40, 2n=52) showed private alleles in different enzyme systems; therefore, these cytotypes were genetically different, both from each other and other cytotypes. Although cytotypes in central Anatolia (2n=52S, 2n=56, 2n=58, and 2n=60) contained a different diploid chromosome number, they showed identical patterns in terms of their allele content in the 28 enzymatic loci. © 2015 Elsevier Ltd

Lack of mutations in the PVRL3 gene in North American caucasians with non-syndromic cleft lip/palate

Cleft lip with or without cleft palate (CLP) is one of the most common birth defects. In about 70% of cases, CLP occurs as an isolated anomaly, denoted non-syndromic CLP (nsCLP). Genetic linkage and association studies have implicated many loci in susceptibility to nsCLP, including some members of the nectin gene family. We performed mutation screening of the PVRL3 gene that encodes nectin-3 in 73 unrelated Caucasian nsCLP patients and 105 unrelated controls from North America. We detected no sequence variants in the PVRL3 gene in either the nsCLP patients or the controls. These data suggest that PVRL3 is not an important susceptibility gene for nsCLP in the North American Caucasian population