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Titolo:
Improved detection of CFTR mutations in southern California Hispanic CF patients
Autore:
Wong, LJC; Wang, JJ; Zhang, YH; Hsu, E; Heim, RA; Bowman, CM; Woo, MS;
Indirizzi:
Georgetown Univ, Med Ctr, Inst Mol & Human Genet, Washington, DC 20007 USAGeorgetown Univ Washington DC USA 20007 n Genet, Washington, DC 20007 USA Childrens Hosp Los Angeles, Dept Pediat, Los Angeles, CA 90027 USA Childrens Hosp Los Angeles Los Angeles CA USA 90027 Angeles, CA 90027 USA Genzyme Genet, Framingham, MA USA Genzyme Genet Framingham MA USAGenzyme Genet, Framingham, MA USA
Titolo Testata:
HUMAN MUTATION
fascicolo: 4, volume: 18, anno: 2001,
pagine: 296 - 307
SICI:
1059-7794(2001)18:4<296:IDOCMI>2.0.ZU;2-L
Fonte:
ISI
Lingua:
ENG
Soggetto:
CYSTIC-FIBROSIS MUTATIONS; GRADIENT GEL-ELECTROPHORESIS; CHRONIC-PANCREATITIS; HIGH HETEROGENEITY; POINT MUTATIONS; GENE; POPULATION; IDENTIFICATION; COMMON; CHROMOSOMES;
Keywords:
Hispanic CF; CFTR; TTGE; temporal temperature gradient gel electrophoresis; mutation detection method; cystic fibrosis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
47
Recensione:
Indirizzi per estratti:
Indirizzo: Wong, LJC Georgetown Univ, Med Ctr, Inst Mol & Human Genet, M4000,3800 Reservoir Rd NW, Washington, DC 20007 USA Georgetown Univ M4000,3800 ReservoirRd NW Washington DC USA 20007
Citazione:
L.J.C. Wong et al., "Improved detection of CFTR mutations in southern California Hispanic CF patients", HUM MUTAT, 18(4), 2001, pp. 296-307

Abstract

Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause cystic fibrosis (CF), a common autosomal recessive disease in Caucasians. The broad mutation spectrum varies among different patient groups. Current molecular diagnoses are designed to detect 80-97% of CF chromosomes in Caucasians and Ashkenazi Jews but have a much lower detection rate in Hispanic CF patients. Grebe et al. [1994] reported a 58% detection rate in Hispanic patients. Since then, there has been no large,scale, complete mutational analysis of Hispanic CF patients. In this study, the mutations in62 Hispanic patients from southern California were investigated. The entire coding and flanking intronic regions of the CFTR gene were analyzed by temporal temperature gradient gel electrophoresis (TTGE) followed by sequencing to identify the mutations. Eleven novel mutations were discovered in this patient group: 3876delA, 406-1G>A, 935delA, 663delT, 3271delGG, 2105-2117del13insAGAAA, 3199del6, Q179K, 2108delA, 3171delC, and 3500-2A>T. Among the mutations, seven were out-of-frame insertions and deletions that result in truncated proteins, two were splice,site mutations, one was an in,frame 6bp deletion, and one was a missense mutation that involved the non-conservative change of glutamine. 179 to lysine. All patients presented severe classical clinical course with pancreatic insufficiency and poor growth, consistent with the nature of truncation mutation. The results indicate that TTGE screening following the analysis of recurrent mutations will substantially improve the mutation detection rate for Hispanic CF patients from southern California. Hum Mutat 18:296-307,2001. (C) 2001 Wiley-Liss, Inc.

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Documento generato il 25/01/20 alle ore 15:35:00