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>
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