两个新的β-珠蛋白基因突变导致两个中国家庭的β-地中海贫血表型。
Two novel deletion mutations in β-globin gene cause β-thalassemia trait in two Chinese families.
机构信息
Medical Genetic Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, People's Republic of China.
Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, 510010, Guangdong, People's Republic of China.
出版信息
Hum Genomics. 2023 Dec 8;17(1):111. doi: 10.1186/s40246-023-00559-4.
BACKGROUND
β-Thalassemia is mainly caused by point mutations in the β-globin gene cluster. With the rapid development of sequencing technic, more and more variants are being discovered.
RESULTS
In this study, we found two novel deletion mutations in two unrelated families, HBB: c.180delG (termed β) and HBB: c.382_402delCAGGCTGCCTATCAGAAAGTG (termed β) in family A and B, respectively. Both the two novel mutations lead to β-thalassemia trait. However, when compounded with other β-thalassemia, it may behave with β-thalassemia intermedia or β-thalassemia major.
CONCLUSION
Our study broadens the variants spectral of β-thalassemia in Chinese population and provides theoretical guidance for the prenatal diagnosis.
背景
β-地中海贫血主要由β-珠蛋白基因簇中的点突变引起。随着测序技术的快速发展，越来越多的变异被发现。
结果
本研究在两个无关家系中发现了两种新的缺失突变，家系 A 中的 HBB：c.180delG（命名为β）和家系 B 中的 HBB：c.382_402delCAGGCTGCCTATCAGAAAGTG（命名为β），这两种新的突变均导致β-地中海贫血表型。然而，当与其他β-地中海贫血复合时，可能表现为β-地中海贫血中间型或β-地中海贫血重型。
结论
本研究拓宽了中国人群β-地中海贫血的变异谱，为产前诊断提供了理论指导。
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