Extended structural variation of a pentanucleotide repeat in the GSTP1 gene: characterisation in a normal population and in thyroid and gastric tumours

• Type: Article in International Scientific Journal
• Date: 2000

Authors

Alves, C (Author) Other; Silva, F (Author) Other; Gusmao, L (Author) FCUP; Seruca, R (Author) Other; Soares, P (Author) Other; Reis, RM (Author) Other; Amorim, A (Author) FCUP

Journal

Title: European Journal of Human Genetics

Vol. 8

Pages: 540-544

ISSN: 1018-4813

Publisher: Springer Nature

Indexing

ISI Web of Knowledge - 9 Citations

Scopus - 9 Citations

Scientific classification

FOS: Natural sciences > Biological sciences

Other information

Authenticus ID: P-000-ZKH

DOI: 10.1038/sj.ejhg.5200486

Abstract (EN): The promoter region of the human GSTP1 gene contains a polymorphic short tandem repeat (STR) locus consisting of pentanucleotide repeat units (ATAAA). In this work we report the existence of a total of 26 alleles in a Caucasian population. While differences in size (ranging from one to five base pairs) were responsible for the major variation, in five size-defined classes, two alternative sequences were found. Automatic fragment sizing and sequencing analysis revealed that this polymorphism is of a highly complex nature in contrast with previous reports. A genetic population study was carried out on a random sample from Portugal showing no deviation from Hardy-Weinberg equilibrium. Somatic instability studies were also performed on gastric and thyroid tumours using this STR: no instability was detected in thyroid tumour tissues when compared with their normal counterpart but in gastric tumour tissues microsatellite instability (MSI) was detected in 9.6% of the cases and loss of heterozygosity (LOH) also in 9.6% of the cases studied. The results obtained with GSTP1 in gastric cancer were compared with previously reported data on MSI using BAT-26 and several dinucleotide repeat markers.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 5