Dan-Qing Qin1, Li DU1, Hong-Ke Ding1, Ji-Cheng Wang1, Teng-Long Yuan1, Cui-Ze Yao1, Fei-Fei Lan2. 1. Medical Genetics Center of Guangdong Women and Children Hospital,Guangzhou 511442，Guangdong Province, China,Maternal and Children Metabolic-Genetic Key Laboratory of Guangdong，Guangzhou 511442，Guangdong Province, China. 2. Medical Genetics Center of Guangdong Women and Children Hospital,Guangzhou 511442，Guangdong Province, China,Maternal and Children Metabolic-Genetic Key Laboratory of Guangdong，Guangzhou 511442，Guangdong Province, China,E-mail: shuyue88@163.com.
Abstract
OBJECTIVE: To investigate the gene diagnosis and phenotypes analysis for a couple with β-thalassemia suspected from of blood routine test and hemoglobin electrophoresis, as well as the prenatal gene diagnosis of the fetus. METHODS: The gene mutation of β-globin in the samples of peripheral blood of pregnant woman and her husband, as well as amniotic fluid of pregnant woman were analyzied and identified by using PCR-RDB and Sanger sequencing. RESULTS: The detection showed that the heterozygote mutation of IVS-Ⅱ-654 (C>T), which is common mutation of β-globin gene, existed in pregnant woman, while her husband carried a rare mutation CD29 (c.90 C>T) of β-globin gene. The prenatal diagnosis indicated that the fetus inherited with mutation from the parents, fetus genotype was βIVS-Ⅱ-6541/βCD29. CONCLUSION: The CD29(C>T) mutation of β-globin gene has been identified in Chinese population first. Although this mutation type is symonymous mutation, but its carrier displays phenotype of β-thalaessmia. Therefore, the attention to this mutation should be paid considering the genetic risk. It contributes to genetic counseling and prenatal gene diagnosis.
OBJECTIVE: To investigate the gene diagnosis and phenotypes analysis for a couple with β-thalassemia suspected from of blood routine test and hemoglobin electrophoresis, as well as the prenatal gene diagnosis of the fetus. METHODS: The gene mutation of β-globin in the samples of peripheral blood of pregnant woman and her husband, as well as amniotic fluid of pregnant woman were analyzied and identified by using PCR-RDB and Sanger sequencing. RESULTS: The detection showed that the heterozygote mutation of IVS-Ⅱ-654 (C>T), which is common mutation of β-globin gene, existed in pregnant woman, while her husband carried a rare mutation CD29 (c.90 C>T) of β-globin gene. The prenatal diagnosis indicated that the fetus inherited with mutation from the parents, fetus genotype was βIVS-Ⅱ-6541/βCD29. CONCLUSION: The CD29(C>T) mutation of β-globin gene has been identified in Chinese population first. Although this mutation type is symonymous mutation, but its carrier displays phenotype of β-thalaessmia. Therefore, the attention to this mutation should be paid considering the genetic risk. It contributes to genetic counseling and prenatal gene diagnosis.
Authors: Danqing Qin; Li Du; Jicheng Wang; Cuize Yao; Hao Guo; Tenglong Yuan; Jie Liang; Aihua Yin Journal: J Int Med Res Date: 2020-11 Impact factor: 1.671