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Titolo:
Detection of novel ALAD gene polymorphisms using denaturing high-performance liquid chromatography
Autore:
Niu, TH; Seielstad, M; Zeng, X; Li, G; Apffel, A; Hahnenberger, K; Xu, XP;
Indirizzi:
Harvard Sch Publ Hlth, Program Populat Genet, Boston, MA 02115 USA HarvardSch Publ Hlth Boston MA USA 02115 lat Genet, Boston, MA 02115 USA Chinese Acad Med Sci, Beijing 100037, Peoples R China Chinese Acad Med Sci Beijing Peoples R China 100037 037, Peoples R China Liaoning Antiepidem Stn, Shenyang, Peoples R China Liaoning Antiepidem Stn Shenyang Peoples R China nyang, Peoples R China Agilent Technol, Palo Alto, CA 94304 USA Agilent Technol Palo Alto CA USA94304 t Technol, Palo Alto, CA 94304 USA Beijing Med Univ, Ctr Ecogenet & Reprod Hlth, Beijing 100083, Peoples R China Beijing Med Univ Beijing Peoples R China 100083 100083, Peoples R China Harvard Univ, Sch Med, Brigham & Womens Hosp, Dept Med,Channing Lab, Boston, MA 02115 USA Harvard Univ Boston MA USA 02115 t Med,Channing Lab, Boston, MA 02115 USA
Titolo Testata:
HUMAN BIOLOGY
fascicolo: 3, volume: 73, anno: 2001,
pagine: 429 - 442
SICI:
0018-7143(200106)73:3<429:DONAGP>2.0.ZU;2-1
Fonte:
ISI
Lingua:
ENG
Soggetto:
AMINOLEVULINATE DEHYDRATASE POLYMORPHISM; HUMAN-GENOME-PROJECT; LINKAGE DISEQUILIBRIUM; MUTATION DETECTION; LEAD WORKERS; BLOOD LEAD; DIVERSITY; PORPHYRIA; ALLELE; TRANSMISSION;
Keywords:
DHPLC; sequence analysis; genetics;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
34
Recensione:
Indirizzi per estratti:
Indirizzo: Niu, TH Harvard Sch Publ Hlth, Program Populat Genet, Boston, MA 02115 USAHarvard Sch Publ Hlth Boston MA USA 02115 t, Boston, MA 02115 USA
Citazione:
T.H. Niu et al., "Detection of novel ALAD gene polymorphisms using denaturing high-performance liquid chromatography", HUMAN BIOL, 73(3), 2001, pp. 429-442

Abstract

Denaturing high-performance liquid chromatography (DHPLC), which is based on the separation of mismatched DNA heteroduplexes, is one of the most promising techniques for detecting nucleotide polymorphisms. Lead is an important environmental toxicant that can impair the cardiovascular, central nervous, renal, reproductive, and hematologic systems. Here we compare the sensitivity and efficiency of DNA polymorphism detection in the delta -aminolevulinate dehydratase (ALAD) gene encoding the principal lead-binding protein in humans by means of DHPLC and direct DNA sequencing of polymerase chain reaction amplicons. In a sample of 48 unrelated Chinese women, five novel mutations were discovered in intron 6 (G13298C), exon 7 (C13348T), intron 8 (C13847T), intron 12 (C15096T), and the 3 ' untranslated region of exon 13 (A15762C). The allele frequencies of C13298, T13348, T13847, T15096, and C15762 alleles were 21.3%, 2.3%. 82.1%, 62.5%, and 1.1%, respectively. All five mutations were detected by both DHPLC and direct DNA sequencing. No previously reported missense ALAD mutations were found in this Chinese population. Our study confirms that DHPLC provides an accurate method for the rapid identification of single nucleotide polymorphisms.

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Documento generato il 06/04/20 alle ore 02:09:25