Rapid and cost-effective antenatal diagnosis of haemoglobin Bart's hydrops foetalis syndrome using a duplex-polymerase chain reaction

Wee, Yong Chui and Tan, Kim Lian and Tan, Peng Chiong and Yap, S.F. (2005) Rapid and cost-effective antenatal diagnosis of haemoglobin Bart's hydrops foetalis syndrome using a duplex-polymerase chain reaction. Medical Journal of Malaysia, 60 (4). pp. 447-453. ISSN 0300-5283,

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Abstract

Haemoglobin Bart's hydrops foetalis syndrome (--SEA/--SEA) is not compatible with life and contributes to a majority of the hydropic foetuses in the Malaysian Chinese alpha-thalassaemia carriers who possess the 2-alpha-gene deletion in cis (--SEA/alphaalpha). A duplex-PCR which simultaneously amplifies a normal 136 bp sequence between the psialpha-alpha2-globin genes and a 730 bp Southeast Asian deletion-specific sequence (--SEA) between the psialpha2-theta1-globin genes was established. The duplex-PCR which detects the --SEA deletion in both chromosomes serves as a rapid and cost-effective confirmatory test in the antenatal diagnosis of Haemoglobin Bart's hydrops foetalis syndrome in Malaysia. In addition, the duplex-PCR is simple to perform as both the normal and deletion-specific alpha-globin gene sequences are amplified in the same PCR reaction.

Item Type:	Article
Funders:	UNSPECIFIED
Additional Information:	DH
Uncontrolled Keywords:	Antenatal diagnosis; Haemoglobin Bart's hydrops foetalis syndrome, Southeast Asian deletion, DNA amplification, Duplex-PCR
Subjects:	R Medicine
Divisions:	Faculty of Medicine
Depositing User:	Mr Jasny Razali
Date Deposited:	20 Jul 2020 03:50
Last Modified:	20 Jul 2020 03:50
URI:	http://eprints.um.edu.my/id/eprint/24542

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