DHPLC screening of cystic fibrosis gene mutations
نویسندگان
چکیده
منابع مشابه
Prevalence of Cystic Fibrosis Trans-membrane Conductance Regulator Gene common mutations in children with cystic fibrosis in Isfahan, Iran
Background: Cystic fibrosis (CF) is the most common lethal genetic disorder of Cystic Fibrosis Trans-membrane Conductance (CFTR) Regulator gene mutations. We aimed to investigate common mutations in CF patients and to assess its possible relationship with clinical presentations. Materials and Methods: This cross sectional study was conducted on 36 CF patients who were referred to a tertiary ped...
متن کاملDisseminated bronchiectasis and cystic fibrosis gene mutations.
The recently published paper by SANDFORD et al. [1] reviewing the genetic risk factors for chronic obstructive pulmonary disease is bright and revealing; nevertheless, incidental conclusions referring to the role of cystic fibrosis (CF) gene mutations as a predisposing condition for lung disease ("heterozygosity for ýF508 appears to predispose for disseminated bronchiectasis, but the involvemen...
متن کاملAnalysis of CFTR Gene Mutations in Children with Cystic Fibrosis, First Report from North-East of Iran
Objective(s): More than 1500 registered mutations in cystic fibrosis transmembrane regulator (CFTR) gene are responsible for dysfunction of an ion channel protein and a wide spectrum of clinical manifestations in patients with cystic fibrosis (CF). This study was performed to investigate the frequency of a number of well-known CFTR mutations in North Eastern Iranian CF patients. Material and...
متن کاملDHPLC Screening of ATM Gene in Italian Patients Affected by Ataxia-Telangiectasia: Fourteen Novel ATM Mutations
The gene for ataxia-telangiectasia (A-T:MIM: #208900), ATM, spans about 150 kb of genomic DNA and is composed of 62 coding exons. ATM mutations are found along the entire coding sequence of the gene, without evidence of mutational hot spots. Using DNA as the starting material, we used denaturing high performance liquid chromatography (DHPLC) technique to search for ATM gene mutations. Initially...
متن کاملScreening for cystic fibrosis.
Neonatal screening for cystic fibrosis (CF) reduces short-term morbidity but its long term effects remain to be demonstrated. The best available method is the assay of immunoreactive trypsin in dried blood spots, and specificity can be improved by adding direct or indirect genetic analysis. Pregnancies known to be at risk of CF can also be screened by molecular methods, and affected pregnancies...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2002
ISSN: 1059-7794,1098-1004
DOI: 10.1002/humu.10065