Empirical data sets of intraspecific restriction site polymorphism in Drosophila have been gathered in order to test hypotheses derived from coalescent theory. Three main ideas are tested: (1) haplotype frequency in the sample contains information on the topological position of a given haplotype in a cladogram, (2) the frequency of a haplotype is related to the number of mutational connections ...

We present a simple two-stage procedure to define haplotype blocks and construct a statistic to test whether a polymorphism belongs to a block. Applying this method to the data of Gabriel et al. [2002] yielded longer haplotype blocks than were originally reported with a similar average percentage of common haplotypes in blocks. Furthermore, across regions of the genome and among the four popula...

AIM To determine types and frequency of CAPN3 mutations in 29 unrelated Croatian families, analyzed during 6-year prospective and ongoing genetic and epidemiological study of muscular dystrophies in Croatia. METHODS Mutation analysis included allele-specific polymerase chain reaction (PCR) or combination of PCR and restriction fragment length polymorphisms (RFLP) methods. Haplotype analysis w...

Introduced over 200 yr ago to the east coast of North America, Carcinus maenas now ranges from New York to Newfoundland. In the 1980s, a secondary invasion of European lineages, termed northern haplotypes, occurred in Nova Scotia. Young-of-the-year sampled in 2007 revealed that northern haplotypes were present in low frequencies at several northwestern Atlantic sites as far south as New York; a...

(Immunogenetics, Zwijndzecht, Belgium). Results were analyzed with the Yates continuity-corrected chi-square test using the GraphPad program. We found that the frequency of the HLA-DRB1*1302 haplotype was 21.43% in the group of patients compared to 2.56% in the controls (P 5 .0199) (Table 1). The relative risk for the carriers was 8.36. The frequencies of all other HLA haplotypes did not differ...

Signals of archaic admixture have been identified through comparisons of the draft Neanderthal and Denisova genomes with those of living humans. Studies of individual loci contributing to these genome-wide average signals are required for characterization of the introgression process and investigation of whether archaic variants conferred an adaptive advantage to the ancestors of contemporary h...

Mutations in the GJB2 gene have been shown to be the major cause of autosomal recessively inherited, prelingual, non-syndromic hearing loss. 35delG was found to be the most frequent mutation among Caucasians. In this study, we performed haplotype analysis of two large families with autosomal recessive non-syndromic hearing loss (totally 33 affected, 37 unaffected) from Trabzon (a city from the ...

The ubiquitin-conjugating enzyme 2B gene (UBE2B) is involved in the regular and symmetric organization of the fibrous sheath of sperm flagella. This study aimed to examine the relationship between single nucleotide polymorphisms (SNPs) in UBE2B and infertility in Northeast Chinese men. We carried out a polymerase chain reaction-restriction fragment length polymorphism analysis for SNPs in 312 f...

Background: Recent studies demonstrated the multifactorial and chronic nature of male infertility, including mutations of some known spermatogenesis-related genes. The H2B family, member W (H2B.W) gene is one of the testis specific histone variant genes that encodes a sperm telomere-binding protein, required for reorganization and integration of sperm chromosomes. The objective of the present s...

CD1d presents lipid antigen to a conserved population of natural killer (NK) T cells, which participate in host immune defense, tumor cell rejection and suppression of autoimmunity. The levels of human CD1d expression vary significantly between individuals. To understand such variation, we sequenced the region up to 1.7 kb 5' upstream of the translation start site and partially through exon 2 i...