نتایج جستجو برای: 26 polymorphic loci and 27 mutations
تعداد نتایج: 16904322 فیلتر نتایج به سال:
Fifteen new polymorphic microsatellite loci were developed for the cuttlefish Sepiella maindroni. In 32 individuals from a wild population of coastal Ningde, Fujian Province, China, the number of alleles at these loci varied between 2 and 12, with an average of 5.86. The mean observed and expected heterozygosities were 0.6917 and 0.5993, respectively. Among these polymorphic microsatellite loci...
Ten novel polymorphic microsatellite loci were isolated and characterized from the Balearic shearwater (Puffinus mauretanicus), a critically endangered seabird. The developed loci revealed a relatively low number of alleles per locus, as well as low levels of polymorphism (H(O) = 0.377 ± 0.241). One of the loci appeared to be W-linked. All polymorphic loci were successfully amplified in its cl...
Mobile elements represent a relatively new class of markers for the study of human evolution. Long interspersed elements (LINEs) belong to a group of retrotransposons comprising approximately 21% of the human genome. Young LINE-1 (L1) elements that have integrated recently into the human genome can be polymorphic for insertion presence/absence in different human populations at particular chromo...
Miscanthus is a C4 herbaceous perennial species and it was chosen as bioenergy crop due to high biomass yield. sinensis has many phenotypes which are adaptated various environments in China. In this study, 421 accessions of M. were collected from 22 provinces, the genetic polymorphisms amongst these germplasm collections identified using 20 primer pairs designed against 10 each eSSR gSSR transf...
UNLABELLED PREMISE OF THE STUDY We developed 10 novel microsatellite loci for Sagina nodosa, a diploid perennial arctic-alpine herb. To our knowledge, these are the first microsatellite loci for a Sagina species. • METHODS AND RESULTS We performed a low-coverage 454 next-generation sequencing of enriched genomic fragments derived from one individual to generate a massive library of contigs...
The sea cucumber Holothuria scabra is an endangered species. In this study, nine new polymorphic microsatellite loci were developed and tested in 30 individuals. The number of alleles ranged from 2 to 5, and the observed and expected heterozygosities ranged from 0.1200 to 0.7391 and from 0.2408 to 0.5983, respectively. No loci significantly deviated from the Hardy-Weinberg equilibrium af-ter a ...
Hirschsprung disease (HSCR) is a common genetic disorder presenting with functional intestinal obstruction secondary to enteric aganglionosis. HSCR can be familial or sporadic. Although five putative susceptibility genes have been identified, only germline mutations in the RET proto-oncogene account for a significant minority (up to 50%) of familial HSCR; 3% of sporadic HSCR in a population bas...
We have investigated patterns of within-species polymorphism and between-species divergence for synonymous and nonsynonymous variants at a set of autosomal and X-linked loci of Drosophila miranda. D. pseudoobscura and D. affinis were used for the between-species comparisons. The results suggest the action of purifying selection on nonsynonymous, polymorphic variants. Among synonymous polymorphi...
PURPOSE To identify the disease-causing mutations in three consanguineous Pakistani families with multiple members affected by primary congenital glaucoma. METHODS Blood samples were collected, and DNA was extracted. Linkage analysis for reported primary congenital glaucoma loci was performed using closely spaced polymorphic microsatellite markers on genomic DNA from affected and unaffected f...
Hearing Loss (HL) represents high genetic heterogeneity with an incidence of almost 1 out of 500 newborns in most populations. Approximately half of the cases have a genetic basis that most of them are autosomal recessive non-syndromic (ARNSHL) with DFNB1-related defect in many worldwide populations. Given the heterogeneity of the trait together with the unique infrastructure of Iranian populat...
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