CARRIER DETECTION OF DUCHENNE-BECKER MUSCULAR-DYSTROPHY - COMPUTER-ASSISTED DIRECT QUANTITATION OF GENE AMPLIFICATION PRODUCTS

被引：6

作者：

ISHII, K

SAKURABA, H

MINAMIKAWATACHINO, R

SHIMMOTO, M

SUZUKI, Y

机构：

[1] TOKYO METROPOLITAN INST MED SCI,DEPT CLIN GENET,3-18-22 HONKOMAGOME,BUNKYO KU,TOKYO 113,JAPAN

[2] TOKYO METROPOLITAN INST MED SCI,CTR COMP,TOKYO 113,JAPAN

来源：

BRAIN & DEVELOPMENT | 1992年 / 14卷 / 02期

关键词：

DUCHENNE MUSCULAR DYSTROPHY; BECKER MUSCULAR DYSTROPHY; CARRIER DETECTION; DELETION ANALYSIS; DYSTROPHIN GENE; GENE DOSAGE;

D O I：

10.1016/S0387-7604(12)80090-8

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

An improved method by quantitative dystrophin gene deletion analysis was developed for the detection of Duchenne/Becker muscular dystrophy (DMD/BMD) carriers. Exon 52, which had been found to be deleted in DMD probands, was amplified female family members, together with exon 60 as a reference, at the exponential phase of polymerase chain reaction. The products were separated by electrophoresis, the band intensities on gel photographs were quantitated, and the target/control ratios were calculated. The values for three heterozygous mothers were approximately half those for normal individuals and two definite non-heterozygous mothers. This procedure is easy, rapid and useful for the carrier diagnosis of DMD/BMD.

引用

页码：80 / 83

页数：4

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