Two novel deletion mutations in β-globin gene cause β-thalassemia trait in two Chinese families

被引：0

作者：

Bao, Xiuqin ^{[1
,2
,3
]}

Qin, Danqing ^{[1
,2
,3
]}

Wang, Jicheng ^{[1
,2
,3
]}

Chen, Jing ^{[4
]}

Yao, Cuize ^{[1
,2
,3
]}

Liang, Jie ^{[1
,2
,3
]}

Liang, Kailing ^{[1
,2
,3
]}

Wang, Yixia ^{[1
,2
,3
]}

Wang, Yousheng ^{[5
]}

Du, Li ^{[1
,2
,3
]}

Yin, Aihua ^{[1
,2
,3
]}

机构：

[1] Guangdong Women & Children Hosp, Med Genet Ctr, Xingnan Rd 521, Guangzhou 510010, Guangdong, Peoples R China

[2] Guangdong Women & Children Hosp, Maternal & Children Metab Genet Key Lab, Guangzhou 510010, Guangdong, Peoples R China

[3] Guangdong Women & Children Hosp, Thalassemia Diag Ctr, Guangzhou 510010, Guangdong, Peoples R China

[4] Second Peoples Hosp Zhaoqing, Prenatal Diag Ctr, Zhaoqing, Guangdong, Peoples R China

[5] Guangdong Women & Children Hosp, Grassroots Guidance & Collaborat Sect, Guangzhou 510010, Guangdong, Peoples R China

来源：

HUMAN GENOMICS | 2023年 / 17卷 / 01期

基金：

中国国家自然科学基金;

关键词：

beta-Thalassemia; Novel mutations; beta-Thalassemia trait; Premature termination; Truncated peptide;

D O I：

10.1186/s40246-023-00559-4

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Background beta-Thalassemia is mainly caused by point mutations in the beta-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 beta CD59) and HBB: c.382_402delCAGGCTGCCTATCAGAAAGTG (termed beta CD128-134) in family A and B, respectively. Both the two novel mutations lead to beta-thalassemia trait. However, when compounded with other beta 0-thalassemia, it may behave with beta-thalassemia intermedia or beta-thalassemia major.Conclusion Our study broadens the variants spectral of beta-thalassemia in Chinese population and provides theoretical guidance for the prenatal diagnosis.

引用

页数：5

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