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CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations.
Sugarman, Elaine A; Rohlfs, Elizabeth M; Silverman, Lawrence M; Allitto, Bernice A.
Afiliação
  • Sugarman EA; Genzyme Corporation, Genzyme Genetics, Molecular Diagnostic Laboratory, Westborough, Massachusetts 01581, USA.
Genet Med ; 6(5): 392-9, 2004.
Article em En | MEDLINE | ID: mdl-15371903
PURPOSE: We reviewed CFTR mutation distribution among Hispanic and African American individuals referred for CF carrier screening and compared mutation frequencies to those derived from CF patient samples. METHODS: Results from CFTR mutation analyses received from January 2001 through September 2003, were analyzed for four populations: Hispanic individuals with a CF diagnosis (n = 159) or carrier screening indication (n = 15,333) and African American individuals with a CF diagnosis (n = 108) or carrier screening indication (n = 8,973). All samples were tested for the same 87 mutation panel. RESULTS: In the Hispanic population, 42 mutations were identified: 30 in the patient population (77.5% detection rate) and 33 among carrier screening referrals. Five mutations not included in the ACMG/ACOG carrier screening panel (3876delA, W1089X, R1066C, S549N, 1949del84) accounted for 7.55% detection in patients and 5.58% among carriers. Among African American referrals, 33 different mutations were identified: 21 in the patient population (74.4% detection) and 23 in the carrier screening population. Together, A559T and 711+5G>A were observed at a detection rate of 3.71% in CF patients and 6.38% in carriers. The mutation distribution seen in both the carrier screening populations reflected an increased frequency of mutations with variable expression such as D1152H, R117H, and L206W. CONCLUSIONS: A detailed analysis of CFTR mutation distribution in the Hispanic and African American patient and carrier screening populations demonstrates that a diverse group of mutations is most appropriate for diagnostic and carrier screening in these populations. To best serve the increasingly diverse U.S. population, ethnic-specific mutations should be included in mutation panels.
Assuntos
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Negro ou Afro-Americano / Hispânico ou Latino / Testes Genéticos / Regulador de Condutância Transmembrana em Fibrose Cística / Fibrose Cística / Mutação Tipo de estudo: Diagnostic_studies / Evaluation_studies / Prognostic_studies / Screening_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged / Newborn País/Região como assunto: America do norte Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2004 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Negro ou Afro-Americano / Hispânico ou Latino / Testes Genéticos / Regulador de Condutância Transmembrana em Fibrose Cística / Fibrose Cística / Mutação Tipo de estudo: Diagnostic_studies / Evaluation_studies / Prognostic_studies / Screening_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged / Newborn País/Região como assunto: America do norte Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2004 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos