title: Prenatal diagnosis of beta-thalassemia by reverse dot-blot hybridization in southern China.
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.
authors.affiliation: Prenatal Diagnostic Center, Guangzhou Maternal & Neonatal Hospital, Guangzhou Medical College, Guangzhou, Guangdong, People's Republic of China. dongzhi3@yahoo.com.cn
authors.forename: Dongzhi
authors.initials: D
authors.lastname: Li
authors.forename: Can
authors.initials: C
authors.lastname: Liao
authors.forename: Jian
authors.initials: J
authors.lastname: Li
authors.forename: Yining
authors.initials: Y
authors.lastname: Huang
authors.forename: Xingmei
authors.initials: X
authors.lastname: Xie
authors.forename: Jiaxue
authors.initials: J
authors.lastname: Wei
authors.forename: Shaoqing
authors.initials: S
authors.lastname: Wu
mesh_terms: D002681:China; D015193:Chorionic Villi Sampling; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D015151:Immunoblotting / Q000379:methods; D017354:Point Mutation / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D017422:Sequence Analysis, DNA / Q000379:methods; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000235:genetics