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

[1]

FUCHAROEN S, 1989, J BIOL CHEM, V264, P7780

[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 [J].

FUCHAROEN, S ;

FUCHAROEN, G ;

SRIROONGRUENG, W ;

LAOSOMBAT, V ;

JETSRISUPARB, A ;

PRASATKAEW, S ;

TANPHAICHITR, VS ;

SUVATTE, V ;

TUCHINDA, S ;

FUKUMAKI, Y .

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 [J].

YANG, KG ;

KUTLAR, F ;

GEORGE, E ;

WILSON, JB ;

KUTLAR, A ;

STOMING, TA ;

GONZALEZREDONDO, JM ;

HUISMAN, THJ .

BRITISH JOURNAL OF HAEMATOLOGY, 1989, 72 (01) :73-80

← 1 →