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在β地中海贫血产前诊断时检测到一个新的TATA盒突变。

A new TATA box mutation detected at prenatal diagnosis for beta-thalassemia.

作者信息

Cai S P, Zhang J Z, Doherty M, Kan Y W

机构信息

Department of Medicine, University of California, San Francisco 94143-0724.

出版信息

Am J Hum Genet. 1989 Jul;45(1):112-4.

PMID:2741940
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1683388/
Abstract

During the course of prenatal diagnosis for beta-thalassemia in Chinese patients, we encountered a mutation that was not detectable by oligonucleotides for the known Chinese mutations. Amplification of the beta-globin gene by the polymerase chain reaction and direct DNA sequencing revealed a previously undescribed -30 TATA box mutation which was carried by the father. Prenatal diagnosis was achieved, and the fetus did not inherit this beta-thalassemia allele.

摘要

在中国患者进行β地中海贫血产前诊断的过程中，我们遇到了一种突变，已知的针对中国患者突变的寡核苷酸无法检测到该突变。通过聚合酶链反应扩增β珠蛋白基因并进行直接DNA测序，发现了一种先前未描述的-30 TATA框突变，该突变由父亲携带。实现了产前诊断，胎儿未继承该β地中海贫血等位基因。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e747/1683388/b00e02306138/ajhg00104-0119-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e747/1683388/93c89e4d8ff3/ajhg00104-0119-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e747/1683388/b00e02306138/ajhg00104-0119-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e747/1683388/93c89e4d8ff3/ajhg00104-0119-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e747/1683388/b00e02306138/ajhg00104-0119-b.jpg

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2
An experimental verification of the predicted effects of promoter TATA-box polymorphisms associated with human diseases on interactions between the TATA boxes and TATA-binding protein.启动子 TATA 盒多态性与人类疾病相关的预测效应的实验验证对 TATA 盒与 TATA 结合蛋白相互作用的影响。
PLoS One. 2013;8(2):e54626. doi: 10.1371/journal.pone.0054626. Epub 2013 Feb 12.
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本文引用的文献

1
beta-Thalassemia in a Kurdish Jew. Single base changes in the T-A-T-A box.一名库尔德犹太人的β地中海贫血。TATA框中的单碱基变化。
J Biol Chem. 1982 Jun 10;257(11):5994-6.
2
beta-Thalassemia in American Blacks: novel mutations in the "TATA" box and an acceptor splice site.美国黑人中的β地中海贫血：“TATA”框和一个剪接受体位点的新突变
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Diagnosis of sickle cell anemia and beta-thalassemia with enzymatically amplified DNA and nonradioactive allele-specific oligonucleotide probes.利用酶促扩增DNA和非放射性等位基因特异性寡核苷酸探针诊断镰状细胞贫血和β地中海贫血。
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A simple approach to prenatal diagnosis of beta-thalassemia in a geographic area where multiple mutations occur.
Blood. 1988 May;71(5):1357-60.
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Molecular basis of beta thalassemia in south China. Strategy for DNA analysis.中国南方β地中海贫血的分子基础。DNA分析策略。
Hum Genet. 1988 Jan;78(1):37-40. doi: 10.1007/BF00291231.
9
The same "TATA" box beta-thalassemia mutation in Chinese and US blacks: another example of independent origins of mutation.中国人群和美国黑人中相同的“TATA”盒β地中海贫血突变：突变独立起源的又一实例
Hum Genet. 1986 Oct;74(2):162-4. doi: 10.1007/BF00282081.
10
A novel mutation in the TATA box in a Japanese patient with beta +-thalassemia.一名日本β+-地中海贫血患者TATA框中的新型突变。
Blood. 1986 Feb;67(2):547-50.