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Refining quantitative fluorescent polymerase chain reaction for prenatal detection of X chromosomal anomalies in the major Southeast Asian populations.

Singapore Med J

December 2008

Department of Obstetrics and Gynaecology, Yong Loo Lin School of Medicine, National University of Singapore, and Department of Laboratory Medicine, National University Hospital Service Block, 5 Lower Kent Ridge Road, Singapore 119074.

Introduction: This study aimed to refine the current quantitative fluorescent polymerase chain reaction (QF-PCR) screen to detect X chromosome anomalies for prenatal diagnosis in the major Southeast-Asian populations.

Methods: 100 amniotic fluid samples from Chinese, Malay and Indian origins were subjected to QF-PCR using the X chromosome markers, HPRT, X22 and AMXY, along with the autosomal marker D21S1411.

Results: Out of the 100 samples tested by markers X22 and HPRT, eight samples were homozygous for both markers, of which seven were resolved by comparison with the autosomal marker D21S1411.

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