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| Registros recuperados: 992 | |
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| REPETTO,GABRIELA M; PUGA,ALONSO R; DELGADO,IRIS. |
| Cystic fibrosis (CF) is caused by mutations in the CFTR gene. More than 1600 mutations have been described, with frequencies that differ worldwide according to the ethnic origin of patients. A small group of mutations are recurrent on several populations. It has been shown that they each tend occur on specific chromosome 7 haplotypes, supporting the notion of a single origin for them. Less than 50% of mutations in Chilean patients have been identified to date. To indirectly assess the possible presence of a predominant founder mutation in the remaining unknown alíeles, we evaluated 2 polymorphic markers, XV-2c and KM.19, tightly linked to the CFTR locus. The study was done in Chilean CF patients with unknown or delt F508 ( F508) CFTR mutations and their... |
| Tipo: Journal article |
Palavras-chave: CFTR gene; Cystic fibrosis; F508; Haplotype analys. |
| Ano: 2007 |
URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602007000200013 |
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| ZHENG,LIHONG; SUN,HAIMING; WANG,JINGWEI; LI,SHILIN; BAI,JING; JIN,YAN; YU,YANG; CHEN,FENG; JIN,LI; FU,SONGBIN. |
| Y chromosomal STRs show sufficient variability among individduals in a population and a high degree of geographical differentiation, such that their polymorphic character makes them especially suited for population genetic studies. To investígate the polymorphism of a set of 17 Y-STR loci in northern China, we genotyped the 17 Y chromosomal STR loci in a population sample of 377 unrelated males from eight ethnic populations in northern China. We calculated the haplotype frequencies, Rst value and carried out the analysis of molecular variance (AMOVA). We then drew the multidimensional scaling analysis (MDS) plot and phylogenetic tree based on the Rst value. All populations showed a high level of haplotype diversity, with low inter-population variance as... |
| Tipo: Journal article |
Palavras-chave: China; Population; STR; Y chromosome. |
| Ano: 2009 |
URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602009000400011 |
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| Registros recuperados: 992 | |
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