Identification of the parental origin of polysomy in two 49,XXXXY cases期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

Identification of the parental origin of polysomy in two 49,XXXXY cases

Authors:	Arzu Ç elik,Serpil Eraslan,Nalan Gö kgö z,Hatice Ilgin,Seher Baç aran,I&# ik Bö kesoy,Hü lya Kayserili,Memnune Yü ksel-Apak,Betü l Kirdar

Affiliation:	Department of Molecular Biology and Genetics, Boaziçi University, Istanbul, Turkey;Medical Biology Department, Ankara University Medical Faculty, Ankara, Turkey;Division of Medical Genetics, Institute of Child Health, Istanbul University, Istanbul, Turkey;Department of Chemical Engineering. Boaziçi University, Istanbul, Turkey

Abstract:	The parental origin and mechanism of formation of polysomy X were studied in two polysomic cases, using four X-linked restriction fragment length polymorphisms, three (CA)_n dinucleotide repeat sequences and one variable number tandem repeat (VNTR) locus as genetic markers. A nonradioactive technique based on the hybridization of the polymerase chain reaction (PCR) product was developed for the analysis of dinucleotide repeats. Segregation analysis using different nonradioactive approaches based on the PCR, revealed that all four X chromosomes were of maternal origin. These data provide additional evidence of an identical mechanism of successive nondisjunctions in maternal meiosis I and II.

Keywords:	(CA)_n, repeats nondisjunction polysomy X RFLP analysis 49,XXXXY