نتایج جستجو برای: m470v

تعداد نتایج: 30  

Journal: :American journal of respiratory and critical care medicine 2000
P G Noone C A Pue Z Zhou K J Friedman E L Wakeling M Ganeshananthan R H Simon L M Silverman M R Knowles

Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane regulator (CFTR) gene. The 5T allele in intron 8 (IVS8) causes abnormal splicing in the CFTR gene, and is associated with lung disease when it occurs in cis with a missense mutation in the CFTR gene, R117H. However, the 5T variant alone has not been reported to cause lung disease. We describe two adult female patients w...

Journal: :Asian journal of andrology 2012
Wu-Hua Ni Lei Jiang Qian-Jin Fei Jian-Yuan Jin Xu Yang Xue-Feng Huang

Congenital bilateral absence of the vas deferens (CBAVD) is a frequent cause of obstructive azoospermia, and mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene have also been frequently identified in patients with CBAVD. However, the distribution of the CFTR polymorphisms M470V, poly-T, TG-repeats and F508del mutation in the Chinese CBAVD population with presumed l...

Journal: :The Journal of heredity 2006
Giselda M K Cabello Pedro H Cabello Juan C Llerena Octavio Fernandes

The analysis of 2 diallelic loci (M470V and T854T) and a microsatellite IVS8(T)n of the cystic fibrosis transmembrane conductance regulator (CFTR) gene has shown different haplotype distribution in Brazilian cystic fibrosis (CF) chromosomes carrying different CF mutations. The DeltaF508 mutation was in absolute linkage disequilibrium with 1-1 haplotype (M470V-T854T). Most of DeltaF508 chromosom...

2012
Ping Wang Satoru Naruse Hong Yin Zhongfang Yu Tianqu Zhuang Wei Ding Yanmin Wu Muxin Wei

Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been implicated in the onset of cystic fibrosis and other clinical respiratory disorders. In the present study, we investigated the role of CFTR variations, poly-T, TG-repeats, and M470V in susceptibility to bronchial asthma and chronic bronchitis in a Chinese population in Jiangsu province, China. A total of ...

Journal: :Journal of Dr Behcet Uz Children s Hospital 2017

Journal: :Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2007
B M Ciminelli A Bonizzato C Bombieri F Pompei M Gabaldo C Ciccacci A Begnini A Holubova P Zorzi T Piskackova M Macek C Castellani G Modiano P F Pignatti

BACKGROUND On the basis of previous findings on random individuals, we hypothesized a preferential association of CF causing mutations with the M allele of the M470V polymorphic site of the CFTR gene. METHODS We have determined the M/V-CF mutation haplotype in a series of 201 North East Italian and 73 Czech CF patients who were not F508del homozygotes, as F508del was already known to be fully...

Journal: :Journal of Cystic Fibrosis 2013

اخوان نیاکی, هاله, اسماعیلی دوکی, محمدرضا, توکلی بزاز, جواد, خلقی اسگوئی, وحید, طبری‌پور, رضا, لاریجانی, باقر, پورباقر, رقیه,

Background: Cystic fibrosis (CF) is a multiorgan autosomal recessive disorder. As CF is highly heterogeneous in Iran and many mutations have a low frequency, routine molecular diagnostic methods are not very efficient. The use of highly polymorphic intragenic markers not only can facilitate phenotype prediction in prenatal diagnosis by gene tracking, but also can lead to the demonstration of po...

ژورنال: :مجله دانشکده پزشکی دانشگاه علوم پزشکی تهران 0
وحید خلقی اسگوئی kholghi oskooei vahid cellular and molecular biology research center, babol university of medical sciences, babol, iran.مرکز تحقیقات بیولوژی سلولی و مولکولی، دانشگاه علوم پزشکی بابل، بابل، ایران. محمدرضا اسماعیلی دوکی esmaeeli douki mohammad reza pediatric non-communicable diseases research center, babol university of medical sciences, babol, iran.مرکز تحقیقات بیماری های غیرواگیر اطفال، دانشگاه علوم پزشکی بابل، بابل، ایران. رضا طبری پور tabaripour reza department of biology, science and research branch, islamic azad university, tehran, iran.گروه بیولوژی واحد علوم و تحقیقات دانشگاه آزاد اسلامی، تهران، تهران، ایران. رقیه پورباقر pourbagher roghieh cellular and molecular biology research center, babol university of medical sciences, babol, iran.مرکز تحقیقات بیولوژی سلولی و مولکولی، دانشگاه علوم پزشکی بابل، بابل، ایران. جواد توکلی بزاز tavakkoly bazzaz javad department of genetics, school of medicine tehran university of medical sciences, tehran, iran.گروه ژنتیک دانشگاه علوم پزشکی تهران، تهران، ایران. باقر لاریجانی larijani bagher department of genetics, school of medicine tehran university of medical sciences, tehran, iran.مرکز تحقیقات غدد درون ریز دانشگاه علوم پزشکی تهران، تهران، ایران. هاله اخوان نیاکی

زمینه و هدف : فیبروزکیستی بیماری ژنتیکی با الگوی توارثی اتوزوم مغلوبی است که باعث درگیر شدن چندین ارگان می شود. به کارگیری مارکرهای پلی مورفیک در ردگیری ژنی می تواند راه حلی مناسب در زمینه تشخیص پیش از تولد ارایه کند هم چنین می تواند در بررسی همراهی احتمالی هاپلوتیپ ها با جهش های خاص استفاده گردد. این تحقیق به بررسی پلی مورفیسم های ivs8 poly t و m470v در افراد سالم و کودکان مبتلا به فیبروزکیستی...

2014
Qiang Du Zheng Li Yongfeng Pan Xiaoliang Liu Bochen Pan Bin Wu

PURPOSE To evaluate the significance of molecular detection of cystic fibrosis transmembrane conductance regulator (CFTR) M470V, intron 8 poly-T, and intron 8 TG-repeats in congenital bilateral absence of the vas deferens (CBAVD). METHODS Eighty-nine male patients with CBAVD and 103 healthy males were included in this study. Polymerase chain reaction was performed to amplify the polymorphic r...

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