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Molecular and prenatal diagnosis for a Chinese pregnant woman with a novel mutation of β thalassemia / 中华血液学杂志
Chinese Journal of Hematology ; (12): 245-248, 2011.
Article ي Zh | WPRIM | ID: wpr-251983
المكتبة المسؤولة: WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To conduct molecular and prenatal diagnosis for a couple with β thalassemia.</p><p><b>METHODS</b>Blood routine examination and hemoglobin analysis were used for screening of thalassemia. Seventeen common Chinese mutations of β thalassemia were detected for the carriers with β thalassemia using PCR/RDB. The unknown mutation of β thalassemia was identified by DNA sequencing and DHPLC analysis.</p><p><b>RESULTS</b>The husband was heterozygote of CD41/42 (-TCTT). The wife carried a mutation IVS-I-110 (G→A) of β thalassemia having not been reported in Chinese so far. The fetus was a double mutated heterozygote of IVS-I-110 (G→A) and CD41/42 (-TCTT). The pregnancy was terminated.</p><p><b>CONCLUSION</b>Mutation IVS-I-110 (G→A) of β thalassemia in Chinese is of importance to the genetic counseling and prenatal diagnosis of thalassemia.</p>
الموضوعات
النص الكامل: 1 الفهرس: WPRIM الموضوع الرئيسي: Pregnancy Complications, Hematologic / Prenatal Diagnosis / DNA Mutational Analysis / Base Sequence / Beta-Thalassemia / Diagnosis / Genetics / Mutation نوع الدراسة: Diagnostic_studies المحددات: Female / Humans / Male / Pregnancy اللغة: Zh مجلة: Chinese Journal of Hematology السنة: 2011 نوع: Article
النص الكامل: 1 الفهرس: WPRIM الموضوع الرئيسي: Pregnancy Complications, Hematologic / Prenatal Diagnosis / DNA Mutational Analysis / Base Sequence / Beta-Thalassemia / Diagnosis / Genetics / Mutation نوع الدراسة: Diagnostic_studies المحددات: Female / Humans / Male / Pregnancy اللغة: Zh مجلة: Chinese Journal of Hematology السنة: 2011 نوع: Article