Novel method for molecular detection of the two common hereditary hemochromatosis mutations

被引：16

作者：

Kaler, SG

Devaney, JM

Pettit, EL

Kirshman, R

Marino, MA

机构：

[1] Transgenom Inc, Gaithersburg, MD 20878 USA

[2] Childrens Natl Med Ctr, Washington, DC 20010 USA

[3] NINDS, Clin Neurosci Program, NIH, Bethesda, MD 20892 USA

[4] Univ Oklahoma, Dept Med Genet, Oklahoma City, OK 73162 USA

来源：

GENETIC TESTING | 2000年 / 4卷 / 02期

关键词：

D O I：

10.1089/10906570050114821

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe a novel molecular screening technique for hereditary hemochromatosis through which HFE genotypes at codon positions 282 and 63 are simultaneously detected. The technique combines multiplex PCR and denaturing high-performance liquid chromatography (DHPLC) and allows automated high-throughput analysis. We used this method to genotype 43 previously characterized anonymous DNA specimens in blinded fashion and found multiplex PCR/DHPLC 100% accurate when compared with PCR/restriction enzyme digestion, yet far more efficient.

引用

页码：125 / 129

页数：5

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