Analysis of cosegregation of intragenic DNA sequence variations as markers of maternal cell contamination in prenatal diagnosis of beta thalassemia

Saadi, Abdul Vahab and Girisha, KM and Puthiya, Gopinath M and Satyamoorthy, K (2011) Analysis of cosegregation of intragenic DNA sequence variations as markers of maternal cell contamination in prenatal diagnosis of beta thalassemia. Translational Research, 157 (3). pp. 150-155. (Submitted)

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Abstract

Prenatal diagnosis of 3 HBB gene mutations causing b-thalassemia and hemoglobin D Punjab segregated in a South Indian nuclear family is reported along with a method identified as control for maternal cell contamination (MCC). Amplicons of the HBB gene from genomic DNA obtained from the blood of a thalassemic first child (proband), both parents, and a chorionic villus sample of their second pregnancy were directly sequenced. A test forMCCwas performed by genotyping polymorphic microsatellite markers (D21S11 and D21S1270) by quantitative fluorescence polymerase chain reaction (QF-PCR) and capillary gel electrophoresis. The pedigree analysis showed proband as a compound heterozygote of NG_000007.3:g.70691G.C and NG_000007.3:g.72128T.C mutations; showed the father as a compound heterozygote of NG_000007.3:g.72128T.C and NG_000007.3:g.71938G.C mutations; and showed the mother as a heterozygous carrier of the NG_000007.3:g.70691G.C mutation. The fetus inherited a normal maternal allele and a mutant paternal allele NG_000007.3:g.72128T.C and was ascertained a carrier of b-thalassemia. Analysis of cosegregation of 5 other single nucleotide polymorphisms (SNPs)in the family, including NG_000007.3:g.70603T.C, NG_000007.3:g.71055 G.C, NG_000007.3:g.71113T.G, NG_000007.3:g.72332G.A, and NG_000007.3:g. 72334A.C, defined the disease allele haplotypes. QF-PCR showed no extra maternal alleles in the fetal sample. Prenatal diagnosis of mutations and an absence of MCC was confirmed by cosegregation of the SNPs, suggesting the utility of a panel of such polymorphisms that can serve to identify MCC quickly and reliably.

Item Type: Article
Subjects: Life Sciences > MLSC Manipal
Medicine > KMC Manipal > Paediatrics
Depositing User: KMC Manipal
Date Deposited: 02 Jan 2012 10:35
Last Modified: 22 Oct 2016 15:33
URI: http://eprints.manipal.edu/id/eprint/2127

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