WS21.5 Evolution of CFTR exon 10 and duplications in primates
نویسندگان
چکیده
منابع مشابه
exon 10 cftr gene mutation in male infertility
background: about 10% of infertilities with obstructive azoospermia are congenital and caused by cf gene mutations. m469i mutation was observed for the first time in taiwanese patients. this mutation not only causes cf, but also may be the origin of infertility too. objective: in this study, we aimed in designing a rapid, reliable rflp-pcr procedure for detection of m469i mutation. the correlat...
متن کاملExon 10 CFTR gene mutation in male infertility
BACKGROUND About 10% of infertilities with obstructive azoospermia are congenital and caused by CF gene mutations. M469I mutation was observed for the first time in Taiwanese patients. This mutation not only causes CF, but also may be the origin of infertility too. OBJECTIVE In this study, we aimed in designing a rapid, reliable RFLP-PCR procedure for detection of M469I mutation. The correlat...
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It is well established that exonic sequences contain regulatory elements of splicing that overlap with coding capacity. However, the conflict between ensuring splicing efficiency and preserving the coding capacity for an optimal protein during evolution has not been specifically analyzed. In fact, studies on genomic variability in fields as diverse as clinical genetics and molecular evolution m...
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BACKGROUND Menkes disease (MD) is an X-linked, fatal neurodegenerative disorder of copper metabolism, caused by mutations in the ATP7A gene. Thirty-three Menkes patients in whom no mutation had been detected with standard diagnostic tools were screened for exon duplications in the ATP7A gene. METHODS The ATP7A gene was screened for exon duplications using multiplex ligation-dependent probe am...
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The dopamine D4 receptor (DRD4) gene exhibits a large amount of expressed polymorphism in humans. To understand the evolutionary history of the first exon of DRD4-which in humans contains a polymorphic 12bp tandem duplication, a polymorphic 13bp deletion, and other rare variants-we examined the homologous exon in thirteen other primate species. The great apes possess a variable number of tandem...
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ژورنال
عنوان ژورنال: Journal of Cystic Fibrosis
سال: 2013
ISSN: 1569-1993
DOI: 10.1016/s1569-1993(13)60133-2