DOUBLE HETEROZYGOSITY OF THE BETA-MALAY AND A NOVEL BETA-THALASSEMIA GENE IN A THAI PATIENT

被引：17

作者：

FUCHAROEN, S

FUCHAROEN, G

LAOSOMBAT, V

FUKUMAKI, Y

机构：

[1] PRINCE SONGKLA UNIV, FAC MED, DEPT PEDIAT, SONGKHLA, THAILAND

[2] KHON KAEN UNIV, FAC ASSOCIATED MED SCI, DEPT CLIN MICROSCOPY, KHON KAEN, THAILAND

[3] KYUSHU UNIV, GENET INFORMAT RES LAB, FUKUOKA 812, JAPAN

来源：

AMERICAN JOURNAL OF HEMATOLOGY | 1991年 / 38卷 / 02期

关键词：

BETA-THALASSEMIA; POLYMERASE CHAIN REACTION (PCR); HEMOGLOBIN MALAY; CODON 41 FRAMESHIFT MUTATION;

D O I：

10.1002/ajh.2830380214

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The beta-globin genes from a Thai patient compound heterozygous for beta+- and beta-0- thalassemias were investigated. Amplification and DNA analysis of genomic DNA by the polymerase chain reaction procedure permitted the identification of the beta-Malay mutation (beta-19; AAC-AGC) in one allele and a novel beta-0-thalassemia mutation (41; TTC-TT) in another allele.

引用

页码：142 / 144

页数：3

共 6 条

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[2] FUCHAROEN S, 1990, ACTA HAEMATOL-BASEL, V84, P82
[3] MOLECULAR-BASIS OF BETA-THALASSEMIA IN THAILAND - ANALYSIS OF BETA-THALASSEMIA MUTATIONS USING THE POLYMERASE CHAIN-REACTION
FUCHAROEN, S
FUCHAROEN, G
SRIROONGRUENG, W
LAOSOMBAT, V
JETSRISUPARB, A
PRASATKAEW, S
TANPHAICHITR, VS
SUVATTE, V
TUCHINDA, S
FUKUMAKI, Y
[J]. HUMAN GENETICS, 1989, 84 (01) : 41 - 46
[4] Fukumaki Y, 1991, NEW ASPECTS GENETICS
[5] Wasi P, 1980, Ann N Y Acad Sci, V344, P352, DOI 10.1111/j.1749-6632.1980.tb33674.x
[6] MOLECULAR CHARACTERIZATION OF BETA-GLOBIN GENE-MUTATIONS IN MALAY PATIENTS WITH HB E-BETA-THALASSEMIA AND THALASSEMIA MAJOR
YANG, KG
KUTLAR, F
GEORGE, E
WILSON, JB
KUTLAR, A
STOMING, TA
GONZALEZREDONDO, JM
HUISMAN, THJ
[J]. BRITISH JOURNAL OF HAEMATOLOGY, 1989, 72 (01) : 73 - 80

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