A novel Indian β-thalassemia mutation in the CACCC box of the promoter region

被引：4

作者：

Agarwal, Sarita ^{[1
]}

Arya, Vandana

Stolle, Catherine A.

Pradhan, Mandakini

机构：

[1] Sanjay Gandhi Postgrad Inst Med Sci, Dept Genet, Lucknow 226014, Uttar Pradesh, India

[2] Childrens Hosp Philadelphia, Mol Genet Lab, Philadelphia, PA 19104 USA

来源：

EUROPEAN JOURNAL OF HAEMATOLOGY | 2006年 / 77卷 / 06期

关键词：

beta-thalassemia; sequencing; promoter region; polymerase chain reaction;

D O I：

10.1111/j.0902-4441.2006.t01-1-EJH2923.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

This is the first report of a previously undescribed mutation in Indian subjects of the CACCC box of promoter region for beta-globin, which in combination with a common mutation produces thalassemia major in the offspring of the family.

引用

页码：530 / 532

页数：3

共 11 条

[1] Geographic and ethnic distribution of β-thalassemia mutations in Uttar Pradesh, India [J].

Agarwal, S ;

Pradhan, M ;

Gupta, UR ;

Sarwai, S ;

Agarwal, SS .

HEMOGLOBIN, 2000, 24 (02) :89-97

[2] Rare β-thalassemia mutations are cause of concern [J].

Gupta, A ;

Agarwal, S .

AMERICAN JOURNAL OF HEMATOLOGY, 2004, 76 (03) :312-312

[3] Molecular genetic testing of β-thalassemia patients of Indian origin and a novel 8-bp deletion mutation at Codons 36/37/38/39 [J].

Gupta, A ;

Hattori, Y ;

Gupta, UR ;

Sarwai, S ;

Nigam, N ;

Singhal, P ;

Agarwal, S .

GENETIC TESTING, 2003, 7 (02) :163-168

[4] AN ERYTHROID SPECIFIC NUCLEAR FACTOR BINDING TO THE PROXIMAL CACCC BOX OF THE BETA-GLOBIN GENE PROMOTER [J].

MANTOVANI, R ;

MALGARETTI, N ;

NICOLIS, S ;

GIGLIONI, B ;

COMI, P ;

CAPPELLINI, N ;

BERTERO, MT ;

CALIGARISCAPPIO, F ;

OTTOLENGHI, S .

NUCLEIC ACIDS RESEARCH, 1988, 16 (10) :4299-4313

[5] PROMOTER MUTATIONS PRODUCING MILD BETA-THALASSEMIA IN THE ITALIAN POPULATION [J].

MELONI, A ;

ROSATELLI, MC ;

FAA, V ;

SARDU, R ;

SABA, L ;

MURRU, S ;

SCIARRATTA, GV ;

BALDI, M ;

TANNOIA, N ;

VITUCCI, A ;

CAO, A .

BRITISH JOURNAL OF HAEMATOLOGY, 1992, 80 (02) :222-226

[6]

Smetanina NS, 1997, ACTA HAEMATOL-BASEL, V97, P205

[7]

*UNICEF, 1996, STAT WORLD CHILDR

[8] RARE BETA-THALASSEMIA MUTATIONS IN ASIAN INDIANS [J].

VARAWALLA, NY ;

OLD, JM ;

WEATHERALL, DJ .

BRITISH JOURNAL OF HAEMATOLOGY, 1991, 79 (04) :640-644

[9] Regional distribution of beta-thalassemia mutations in India [J].

Verma, IC ;

Saxena, R ;

Thomas, E ;

Jain, PK .

HUMAN GENETICS, 1997, 100 (01) :109-113

[10]

Weatherall DJ, 2001, THALASSAEMIA SYNDROM

← 1 2 →