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遗传性球形红细胞增多症sptb新突变1例

中国优生与遗传杂志 2022年第1期30卷 125-127页

作者：许玥刘鹏王彦丽李丽接贵涛潍坊医学院山东潍坊261000 临沂市中心医院血液科山东临沂276400

目的加强对遗传性球形红细胞增多症(hereditary spherocytosis,HS)sptb基因突变的认识。方法对1例sptb基因c.5778;788del p.(Thr1928fs)突变导致HS的患儿临床资料进行回顾性分析并复习相关文献。结果该患者的基因测序为sptb基因突变,使... 详细信息

目的加强对遗传性球形红细胞增多症(hereditary spherocytosis,HS)sptb基因突变的认识。方法对1例sptb基因c.5778;788del p.(Thr1928fs)突变导致HS的患儿临床资料进行回顾性分析并复习相关文献。结果该患者的基因测序为sptb基因突变,使所编码蛋白质翻译提前终止而丧失正常功能。其父亲有相同的突变,故认为该基因为致病基因。结论本例患儿符合HS的临床特点,新发现的sptb基因突变可能是致病原因,基因检测可协助诊断。

关键词：遗传性球形红细胞增多症 sptb 基因测序技术

Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis

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Science China(Life Sciences) 2018年第8期61卷 947-953页

作者： Rongrong Wang Shuanghao Yang Ming Xu Jia Huang Hongyan Liu Weiyue Gu Xue Zhang Mc Kusick-Zhang Center for Genetic Medicine State Key Laboratory of Medical Molecular Biology Institute of Basic Medical Sciences Chinese Academy of Medical Sciences School of Basic Medicine Peking Union Medical College Joy Orient Translational Medicine Research Center Co. Ltd The Research Center for Medical Genomics China Medical University Medical Genetics Institute Henan Provincial People's Hospital People's Hospital of Zhengzhou University People's Hospital of Henan University

Hereditary spherocytosis （HS）, the most common cause of congenital hemolytic anemia, is caused by deficiency of the ery- throcyte membrane proteins. Five causative genes （ANK1, sptb, SPTA1, SLC4AI, and EPB42） have been identified. To date, molecular genetic studies have been performed in different populations, including the American, European, Brazilian, Japanese and Korean populations, whereas only a few studies have been described in the Chinese population. Here, by reanalysis of the exome data, we revealed causative mutations and established a definitive diagnosis of HS in all 38 Chinese families. We found 34 novel mutations and four reported mutations in three known HS-causing genes--17 in ANK1, 17 in sptb and four in SLC4A1, suggesting that ANK1 and sptb are the major genes in Chinese patients with HS. All of the ANK1 or sptb mutations, scattered throughout the entire genes, are non-recurrent; and most of them are null mutations, which might cause HS via a hap-loinsufficiency mechanism. De novo mutations in ANK1 or sptb often occur with an unexpected high frequency （87.5% and 64.2%, respectively）. Our study updates our knowledge about the genetic profile of HS in Chinese and shows that family-based, especially parent-offspring trio, sequencing analysis can help to increase the diagnostic power and improve diagnostic efficiency.

关键词： hereditary spherocytosis mutation ANK1 sptb SLC4A1 whole-exome sequencing

Next generation sequencing reveals co-existence of hereditary spherocytosis and Dubin–Johnson syndrome in a Chinese gril: A case report

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World Journal of Clinical Cases 2019年第20期7卷 3303-3309页

作者： Yuan Li Yang Li Yang Yang Wen-Rui Yang Jian-Ping Li Guang-Xin Peng Lin Song Hui-Hui Fan Lei Ye You-Zhen Xiong Zhi-Jie Wu Kang Zhou Xin Zhao Li-Ping Jing Feng-Kui Zhang Li Zhang Anemia Therapeutic Center Institute of Hematology and Blood Diseases HospitalCAMS and PUMC

BACKGROUND Hereditary spherocytosis(HS)is a hereditary disease of hemolytic anemia that occurs due to the erythrocyte membrane ***–Johnson syndrome(DJS),which commonly results in jaundice,is a benign hereditary disorder of bilirubin clearance that occurs only *** co-occurrence of HS and DJS is extremely *** recently diagnosed and treated a case of co-occurring HS and *** SUMMARY A 21-year-old female patient presented to our department because of severe jaundice,severe splenomegaly,and mild anemia since *** eventually confirmed the diagnosis of co-occurring DJS and HS by next generation sequencing(NGS).The treatment of ursodeoxycholic acid in combination with phenobarbital successfully increased hemoglobin and reduced total bilirubin and direct *** The routine application of NGS can efficiently render a definite diagnosis when inherited disorders are suspected.

关键词： Hereditary spherocytosis Dubin–Johnson syndrome Hemolytic anemia Jaundice Next generation sequencing ABCC2 sptb Case report

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细胞mRNA检测鉴别外周血和月经血

中国法医学杂志 2013年第5期28卷 397-399页

作者：王冲李万水徐秀兰石屹李彩霞葛芸英孙辉公安部物证鉴定中心北京100038

目的探讨鉴别月经血和外周血的一种新方法。方法采集月经血和外周血样本,试剂盒提取样本RNA,反转录试剂盒反转录后得到cDNA,利用挑选的引物进行PCR扩增,检测若干个特定基因mRNA的表达情况。结果发现在外周血中可检测到sptb(β-血影蛋白)... 详细信息

目的探讨鉴别月经血和外周血的一种新方法。方法采集月经血和外周血样本,试剂盒提取样本RNA,反转录试剂盒反转录后得到cDNA,利用挑选的引物进行PCR扩增,检测若干个特定基因mRNA的表达情况。结果发现在外周血中可检测到sptb(β-血影蛋白)、PBGD(卟胆原脱氨酶)基因mRNA,但检测不到MMP-7(基质金属蛋白酶-7)基因mRNA;而在月经血中三种基因mRNA都可以检测到。结论检测sptb mRNA、PBGD mRNA、MMP-7 mRNA的表达有可能鉴别外周血和月经血。

关键词：法医物证学外周血月经血 sptb PBGD MMP-7