ArticleAmerican journal of human genetics1993
Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population.
Article in American journal of human genetics, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed.
- BRCA1/2 potential founder variants in the Jordanian population: an opportunity for a customized screening panel.Hereditary cancer in clinical practice · 2023Review
- The Impact of the CFTR Gene Discovery on Cystic Fibrosis Diagnosis, Counseling, and Preventive Therapy.Genes · 2020Review
- Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population.Molecular genetics & genomic medicine · 2016Article
- Prevalence of meconium ileus marks the severity of mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Article
- A population-based study of autosomal-recessive disease-causing mutations in a founder population.American journal of human genetics · 2012Article
- Newborn screening for cystic fibrosis in Alberta: Two years of experience.Paediatrics & child health · 2010Article
- Drawing the history of the Hutterite population on a genetic landscape: inference from Y-chromosome and mtDNA genotypes.European journal of human genetics : EJHG · 2010Article
- A genomewide screen for chronic rhinosinusitis genes identifies a locus on chromosome 7q.The Laryngoscope · 2008Article
- CFTR mutations and reproductive outcomes in a population isolate.Human genetics · 2008Article
- Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from north-eastern Italy: identification of 90% of the mutations.Human genetics · 1995Article
- A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype.American journal of human genetics · 1995Article
- Complete detection of mutations in cystic fibrosis patients of Native American origin.Human genetics · 1994Article
- Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene.American journal of human genetics · 1994Article
- Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes.Human genetics · 1994Article
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The Hutterite population is a genetic isolate with an increased incidence of cystic fibrosis (CF). Previously we identified three CF haplotypes defined by polymorphisms flanking the CF transmembrane conductance regulator (CFTR) gene. delta F508 was present on one of the haplotypes in only 35% of CF chromosomes. We hypothesized that the other two CF haplotypes, one of which was the most common and the other of which is rare, each harbored different non-delta F508 mutations. Single-strand conformation polymorphism analysis detected a missense mutation, M1101K, in both chromosomes of a Hutterite patient carrying the two non-delta F508 haplotypes. M1101K appears to have originated on an uncommon CFTR allele and to be infrequent outside the Hutterite population. The presence of M1101K on two haplotypes is likely the result of a CFTR intragenic recombination which occurred since the founding, 10-12 generations ago, of the Hutterite population. The crossover was located between exons 14a and 17b, an interval of approximately 15 kbp. delta F508 and M1101K accounted for all of the CF mutations in patients from 16 CF families representing the three subdivisions of the Hutterite population.
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