Prenatal Diagnosis of β-Thalassemia by Reverse Dot-Blot Hybridization in Southern China
- 1 January 2006
- journal article
- Published by Taylor & Francis Ltd in Hemoglobin
- Vol. 30 (3), 365-370
- https://doi.org/10.1080/03630260600755625
Abstract
Beta-thalassemia (thal) is the most common genetic disease and is widely distributed in southern China. Prenatal diagnosis is needed to prevent the birth of thalassemic offspring in couples at-risk. This can be performed in the first or second trimester of pregnancy by DNA analysis using polymerase chain reaction (PCR). As there are more than 30 mutations causing beta-thal in Chinese, the point mutation detection by reverse dot-blot for common mutations together with direct DNA sequencing was developed for prenatal diagnosis. Using reverse dot-blot, we were able to offer complete diagnosis in 315 (99.4%) of 317 pregnancies. Only two fetuses needed the DNA sequencing technique for diagnosis. Of the 319 at-risk fetuses, 82 (25.7%) were found to be normal, 143 (44.8%) to be heterozygous for beta-thal and 94 (29.5%) to be affected with beta-thal. Therefore, the combination of reverse dot-blot with direct DNA sequencing can perform prenatal diagnosis by DNA analysis in almost all cases at- risk of beta-thal in southern China.Keywords
This publication has 11 references indexed in Scilit:
- β-ThalassemiaNew England Journal of Medicine, 2005
- The prevalence and spectrum of and thalassaemia in Guangdong Province: implications for the future health burden and population screeningJournal of Clinical Pathology, 2004
- Prenatal Diagnosis in Beta-Thalassemia: An Indian ExperienceFetal Diagnosis and Therapy, 2003
- A simple and effective approach for detecting maternal cell contamination in molecular prenatal diagnosisPrenatal Diagnosis, 2002
- HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene serverHuman Mutation, 2002
- Antenatal screening and fetal diagnosis of β-thalassemia in a Chinese population: prevalence of the β-thalassemia trait in the Guangzhou area of ChinaHuman Genetics, 1996
- Genetic analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes.Proceedings of the National Academy of Sciences of the United States of America, 1989
- A simple salting out procedure for extracting DNA from human nucleated cellsNucleic Acids Research, 1988
- Molecular basis of ? thalassemia in South ChinaHuman Genetics, 1988
- Type of β-Thalassemia Mutations Found in the Chinese Identified by Synthetic OligonucleotidesHemoglobin, 1988