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Titolo:
Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism
Autore:
Glaser, B; Furth, J; Stanley, CA; Baker, L; Thornton, PS; Landau, H; Permutt, MA;
Indirizzi:
Hebrew Univ Jerusalem, Hadassah Med Sch, Dept Endocrinol & Metab, IL-91010Jerusalem, Israel Hebrew Univ Jerusalem Jerusalem Israel IL-91010 L-91010Jerusalem, Israel Univ Penn, Sch Med, Dept Pediat, Div Endocrinol Diabet, Philadelphia, PA 19104 USA Univ Penn Philadelphia PA USA 19104 ol Diabet, Philadelphia, PA 19104 USA Hebrew Univ Jerusalem, Hadassah Med Sch, Dept Pediat, IL-91010 Jerusalem, Israel Hebrew Univ Jerusalem Jerusalem Israel IL-91010 -91010 Jerusalem, Israel Washington Univ, Sch Med, Div Endocrinol Diabet & Metab, St Louis, MO USA Washington Univ St Louis MO USA ocrinol Diabet & Metab, St Louis, MO USA
Titolo Testata:
HUMAN MUTATION
fascicolo: 1, volume: 14, anno: 1999,
pagine: 23 - 29
SICI:
1059-7794(1999)14:1<23:ISNPHA>2.0.ZU;2-0
Fonte:
ISI
Lingua:
ENG
Soggetto:
FOCAL ADENOMATOUS HYPERPLASIA; SULFONYLUREA RECEPTOR GENE; ASHKENAZI JEWS; HYPOGLYCEMIA; INFANCY; PANCREATECTOMY; MANAGEMENT; OCTREOTIDE; REGION; KIR6.2;
Keywords:
sulfonylurea receptor; Ashkenazi Jewish; founder mutation; hyperinsulinism; hypoglycemia; paternal inheritance;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
26
Recensione:
Indirizzi per estratti:
Indirizzo: Glaser, B Hadassah Univ Hosp, Dept Endocrinol & Metab, POB 12000, IL-91120Jerusalem, Israel Hadassah Univ Hosp POB 12000 Jerusalem Israel IL-91120 , Israel
Citazione:
B. Glaser et al., "Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism", HUM MUTAT, 14(1), 1999, pp. 23-29

Abstract

Familial hyperinsulinism (HI; MIM# 256450) is an autosomal recessive disorder of pancreatic beta-cell function, characterized by inadequate suppression of insulin secretion despite severe recurrent fasting hypoglycemia, Subtotal pancreatectomy is frequently required to prevent permanent neurologic sequelae, The incidence of HI in the Caucasian population is estimated at 1:50,000, however an apparent increased incidence among Ashkenazi Jews and Saudi Arabian Arabs has been reported. A locus for HI was assigned by linkage analyses to human chromosome 11p15.1. The sulfonylurea receptor (MIM# 600509, SUR1) and the potassium channel, inwardly rectifying, subfamily J member 11 (MIM# 600937, KIR6.2) genes, 2 components of the beta-cell K-ATP channel, are clustered in this chromosomal region, and mutations in these geneshave been implicated in HI. We previously demonstrated that two mutations in the SUR1 gene are present on approximately 88% of HI-associated chromosomes in Ashkenazi Jewish patients. Haplotype analysis with microsatellite markers flanking the gene revealed that one mutation (delF1388), reported only in Ashkenazi probands, occurred on two related extended haplotypes. By contrast, the second, more common mutation (3992-9g-->a) was associated with nine different intergenic haplotypes and has been reported in non-Jewish HIpatients as well, In this study, we evaluated disease-associated chromosomes from 41 Ashkenazi Jewish and 2 non-Jewish HI patients carrying the 3992-9g-->a mutation by assessing haplotypes defined by nine common single nucleotide polymorphisms (SNPs), six in the SUR1 gene, and three in the KIR6.2 gene. Our results indicate that all 54 chromosomes carrying the 3992-9g-->a mutation in the Jewish patients appear to have originated from one founder mutation, whereas the same mutation on chromosomes from non-Jewish patientsoriginated independently. Furthermore, our findings have implications concerning the HI-associated chromosomes on which no mutation has been identified. Hum Mutat 14:23-29, 1999. (C) 1999 Wiley-Liss, Inc.

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Documento generato il 20/09/20 alle ore 07:36:36