ArticleAmerican journal of human genetics1997
Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
25 citing papers in PubMed, 128 citations in OpenAlex.
- Base editing and nanoparticle transfection of airway cell types essential for treatment of cystic fibrosis.JCI insight · 2026Article
- Base editing and nanoparticle transfection of airway cell types essential for treatment of cystic fibrosis.bioRxiv : the preprint server for biology · 2025Article
- Challenging assumptions about the demographics of eosinophilic gastrointestinal diseases: A systematic review.The journal of allergy and clinical immunology. Global · 2024Article
- Distribution of pathogenic variants in the CFTR gene in a representative cohort of people with cystic fibrosis in the Kingdom of Bahrain.Molecular genetics and genomics : MGG · 2024Article
- Protospacer modification improves base editing of a canonical splice site variant and recovery of CFTR function in human airway epithelial cells.Molecular therapy. Nucleic acids · 2023Article
- A comprehensive review of cystic fibrosis in Africa and Asia.Saudi journal of biological sciences · 2023Review
- Population pharmacogenomics: an update on ethnogeographic differences and opportunities for precision public health.Human genetics · 2022Review
- Molecular analysis ofThe Egyptian journal of medical human genetics · 2021Article
- Characterization of Ancestral Origin of Cystic Fibrosis of Patients with New Reported Mutations in CFTR.BioMed research international · 2020Article
- Known genetic susceptibility factors for chronic pancreatitis in patients of European ancestry are rare in patients of African ancestry.Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] · 2018Article
- Cystic fibrosis newborn screening programs: implications of the CFTR variant spectrum in nonwhite patients.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- p.G970D is the most frequent CFTR mutation in Chinese patients with cystic fibrosis.Human genome variation · 2016Article
- Cystic fibrosis in Sudanese children: First report of 35 cases.Sudanese journal of paediatrics · 2014Article
- Development of allele-specific multiplex PCR to determine the length of poly-T in intron 8 of CFTR.PeerJ · 2014Article
- Professionalism in medicine and hyposkillia.Sudanese journal of paediatrics · 2014Article
- Assessing the Disease-Liability of Mutations in CFTR.Cold Spring Harbor perspectives in medicine · 2012Article
- The challenges of collecting data on race and ethnicity in a diverse, multiethnic state.Hawaii medical journal · 2011Review
- Adult-onset cystic fibrosis in an African-American male.Radiology case reports · 2011Article
- Lack of correlation between pulmonary disease and cystic fibrosis transmembrane conductance regulator dysfunction in cystic fibrosis: a case report.Journal of medical case reports · 2010Article
- Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of Hispanic individuals with cystic fibrosis.The Journal of molecular diagnostics : JMD · 2008Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
Cystic fibrosis (CF)--an autosomal recessive disorder caused by mutations in CF transmembrane conductance regulator (CFTR) and characterized by abnormal chloride conduction across epithelial membranes, leading to chronic lung and exocrine pancreatic disease--is less common in African-Americans than in Caucasians. No large-scale studies of mutation identification and screening in African-American CF patients have been reported, to date. In this study, the entire coding and flanking intronic sequence of the CFTR gene was analyzed by denaturing gradient-gel electrophoresis and sequencing in an index group of 82 African-American CF chromosomes to identify mutations. One novel mutation, 3120+1G-->A, occurred with a frequency of 12.3% and was also detected in a native African patient. To establish frequencies, an additional group of 66 African-American CF chromosomes were screened for mutations identified in two or more African-American patients. Screening for 16 "common Caucasian" mutations identified 52% of CF alleles in African-Americans, while screening for 8 "common African" mutations accounted for an additional 23%. The combined detection rate of 75% was comparable to the sensitivity of mutation analysis in Caucasian CF patients. These results indicate that African-Americans have their own set of "common" CF mutations that originate from the native African population. Inclusion of these "common" mutations substantially improves CF mutation detection rates in African-Americans.
Indexed as
Identifiers
9150159PMC1712417W119119808What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.