caa a22 4500 467984220 CHVBK 20180323112527.0 cr unu---uuuuu 170328e19900101xx s 000 0 eng 10.1007/BF00208926 doi (NATIONALLICENCE)springer-10.1007/BF00208926 Detection of β-thalassemia mutations in the Chinese using amplified DNA from dried blood specimens [Elektronische Daten] [Shu-zhen Huang, Xia-di Zhou, Hao Zhu, Zhao-rui Ren, Yi-tao Zeng] Summary: This paper describes DNA polymerase chain reaction (PCR) amplification directly from dried blood specimens for the detection of the β-thalassemia mutation in China. Target DNA was amplified to span the β-globin gene regions, which included ten types of mutation sites specific for Chinese β-thalassemias. Ten kinds of oligonucleotide probes were constructed and used to hybridize with the amplified DNA. A total of 170 β-thalassemia alleles originating from eastern, southwestern and southern China were analyzed. The results revealed that the distributions of different types of mutations were different in the three regions. The most common types in southern China were a frameshift at codons 41/42 and a C→T substitution at IVS II n.654, the most frequent types in south-western China were codon 17 and IVS II n.654 mutations, and the predominant mutations in eastern China were frameshifts at codons 41/42 and 71/72. Springer-Verlag, 1990 Huang Shu-zhen Laboratory of Medical Genetics, Shanghai Children's Hospital, 380 Kang Ding Road, 200040, Shanghai, People's Republic of China aut Zhou Xia-di Laboratory of Medical Genetics, Shanghai Children's Hospital, 380 Kang Ding Road, 200040, Shanghai, People's Republic of China aut Zhu Hao Laboratory of Medical Genetics, Shanghai Children's Hospital, 380 Kang Ding Road, 200040, Shanghai, People's Republic of China aut Ren Zhao-rui Laboratory of Medical Genetics, Shanghai Children's Hospital, 380 Kang Ding Road, 200040, Shanghai, People's Republic of China aut Zeng Yi-tao Laboratory of Medical Genetics, Shanghai Children's Hospital, 380 Kang Ding Road, 200040, Shanghai, People's Republic of China aut Human Genetics Springer-Verlag 84/2(1990-01-01), 129-131 0340-6717 84:2<129 1990 84 439 https://doi.org/10.1007/BF00208926 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00208926 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Huang Shu-zhen Laboratory of Medical Genetics, Shanghai Children's Hospital, 380 Kang Ding Road, 200040, Shanghai, People's Republic of China aut NATIONALLICENCE 700 1- Zhou Xia-di Laboratory of Medical Genetics, Shanghai Children's Hospital, 380 Kang Ding Road, 200040, Shanghai, People's Republic of China aut NATIONALLICENCE 700 1- Zhu Hao Laboratory of Medical Genetics, Shanghai Children's Hospital, 380 Kang Ding Road, 200040, Shanghai, People's Republic of China aut NATIONALLICENCE 700 1- Ren Zhao-rui Laboratory of Medical Genetics, Shanghai Children's Hospital, 380 Kang Ding Road, 200040, Shanghai, People's Republic of China aut NATIONALLICENCE 700 1- Zeng Yi-tao Laboratory of Medical Genetics, Shanghai Children's Hospital, 380 Kang Ding Road, 200040, Shanghai, People's Republic of China aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 84/2(1990-01-01), 129-131 0340-6717 84:2<129 1990 84 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer