Three new β-globin gene promoter mutations identified through newborn screening

被引：8

作者：

Eng, Barry

Walker, Lynda

Nakamura, Lisa M.

Hoppe, Carolyn

Azimi, Mahin

Lee, Helen

Waye, John S.

机构：

[1] Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ont.

[2] Children's Hospital and Research Center at Oakland, Oakland, CA

[3] Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ont.

[4] Department of Pathology and Molecular Medicine, McMaster University Medical Centre, Hamilton

来源：

HEMOGLOBIN | 2007年 / 31卷 / 02期

关键词：

D O I：

10.1080/03630260701284624

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

We report three new beta-globin gene promoter mutations identified in newborns with hemoglobin (Hb) profiles consistent with Hb S/beta(+)-thalassemia (that) (Hbs FSA). All three mutations are in close proximity to the conserved ATAA sequence located at Positions -31 to -28 relative to the mRNA Cap site. Two cases involved single base substitutions at positions -25 (G -> C) and -32 (C -> T). The remaining case involved the deletion of two bases (-AA) at positions -27 and -26.

引用

页码：129 / 134

页数：6

共 17 条

[1] BETA-THALASSEMIA IN AMERICAN BLACKS - NOVEL MUTATIONS IN THE TATA BOX AND AN ACCEPTOR SPLICE SITE [J].

ANTONARAKIS, SE ;

IRKIN, SH ;

CHENG, TC ;

SCOTT, AF ;

SEXTON, JP ;

TRUSKO, SP ;

CHARACHE, S ;

KAZAZIAN, HH .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1984, 81 (04) :1154-1158

[2] Characterization of a new polymorphism, IVS-I-108 (T→C), and a new β-thalassemia mutation,-27 (A→T), discovered in the course of a prenatal diagnosis [J].

Badens, C ;

Jassim, N ;

Martini, N ;

Mattei, JF ;

Elion, J ;

Lena-Russo, D .

HEMOGLOBIN, 1999, 23 (04) :339-344

[3]

BASRAN RK, 2006, PEDIAT BLOOD CANC

[4] REVERSE DOT-BLOT PROBES FOR THE SCREENING OF BETA-THALASSEMIA MUTATIONS IN ASIANS AND AMERICAN BLACKS [J].

CAI, SP ;

WALL, J ;

KAN, YW ;

CHEHAB, FF .

HUMAN MUTATION, 1994, 3 (01) :59-63

[5]

Fattore S., 1999, HUM MUTAT, V13, P340

[6]

Forget BG, 2001, DISORDERS HEMOGLOBIN, P252

[7] HbVar.: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server [J].

Hardison, RC ;

Chui, DHK ;

Giardine, B ;

Riemer, C ;

Patrinos, GP ;

Anagnou, N ;

Miller, W ;

Wajcman, H .

HUMAN MUTATION, 2002, 19 (03) :225-233

[8]

LIN LI, 1992, AM J HUM GENET, V50, P237

[9] Universal newborn screening for Hb H disease in California [J].

Lorey, F ;

Cunningham, G ;

Vichinsky, EP ;

Lubin, BH ;

Witkowska, HE ;

Matsunaga, A ;

Azimi, M ;

Sherwin, J ;

Eastman, J ;

Farina, F ;

Waye, JS ;

Chui, DHK .

GENETIC TESTING, 2001, 5 (02) :93-100

[10] A novel silent β-thalassemia mutation in the distal CACCC box affects the binding and responsiveness to EKLF [J].

Moi, P ;

Faà, V ;

Marini, MG ;

Asunis, I ;

Ibba, G ;

Cao, A ;

Rosatelli, MC .

BRITISH JOURNAL OF HAEMATOLOGY, 2004, 126 (06) :881-884

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