DNA diagnosis confirms hemoglobin deletion in newborn screen follow-up

被引：5

作者：

Bhardwaj, U

Zhang, YH

Jackson, DS

Buchanan, GR

Therrell, BL

McCabe, LL

McCabe, ERB

机构：

[1] Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, Los Angeles, CA 90095 USA

[2] Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90095 USA

[3] Univ Calif Los Angeles, Mattel Childrens Hosp, Los Angeles, CA USA

[4] Univ Calif Los Angeles, Inst Mol Biol, Los Angeles, CA 90024 USA

[5] Texas So Univ, Dept Biol, Houston, TX 77004 USA

[6] Univ Texas, SW Med Ctr, Dept Pediat, Dallas, TX USA

[7] Univ Texas, Hlth Sci Ctr, Dept Pediat, San Antonio, TX 78284 USA

[8] Natl Newborn Screening & Genet Resource Ctr, Austin, TX USA

来源：

JOURNAL OF PEDIATRICS | 2003年 / 142卷 / 03期

关键词：

D O I：

10.1067/mpd.2003.117

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Molecular genetic confirmatory testing with polymerase chain reaction amplification is integral to neonatal hemoglobinopathy screening programs. In this study, we demonstrate applicability of polymerase chain reaction-based testing for the common deletions in blacks responsible for hereditary persistence of fetal hemoglobin. This approach will provide rapid diagnostic clarification in newborn screening follow-up.

引用

页码：346 / 348

页数：3

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[2]

Bunn HF., 1986, HEMOGLOBIN MOL GENET

[3]

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[4]

FEINGOLD EA, 1989, BLOOD, V74, P2178