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

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.

journal_name

Am J Hum Genet

authors

Cai SP,Zhang JZ,Doherty M,Kan YW

subject

Has Abstract

pub_date

1989-07-01 00:00:00

pages

112-4

issue

1

eissn

0002-9297

issn

1537-6605

journal_volume

45

pub_type

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