Genetic heterogeneity in acatalasemia

被引：7

作者：

Goth, L ^{[1
]}

Pay, A ^{[1
]}

机构：

[1] HUNGARIAN ACAD SCI,BIOL RES CTR,H-6701 SZEGED,HUNGARY

来源：

ELECTROPHORESIS | 1996年 / 17卷 / 08期

关键词：

Hungarian acatalasemia; G to A splicing mutation; single strand conformational polymorphism; heteroduplex; nucleotide sequence;

D O I：

10.1002/elps.1150170805

中图分类号：

Q5 [生物化学];

学科分类号：

071010 ; 081704 ;

摘要：

203 bp long products containing exon 4 and its juntions from the catalase gene were generated by polymerase chain reaction (PCR). These products were analyzed by single strand conformational polymorphism (SSCP), heteroduplex formation and nucleotide sequencing, No polymorphism was detected when the Hungarian acatalasemic sisters, their family members and normocatalasemic controls were analyzed. Sequence analyses did not show the G to A point mutation at position 5 of intron 4. This splicing mutation characterizes the Japanese-type of acatalasemia.

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收藏

页码：1302 / 1303

页数：2

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