United application of STR linkage analysis and multiplex allele specific PCR (MASPCR) in PKU genetic diagnosis was also analysed.

同时分析了STR多态性与多重等位基因特异pcr (MASPCR)在PKU基因诊断中的联合应用。

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Obligate heterozygote --- An individual who may be clinically unaffected but on the basis of pedigree analysis must carry a specific mutant allele.

遗传上已确认为携带特异的突变等位基因，但临床上还未发病的个体。

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Objective: (1) to establish PCR reaction system that USES allele-specific primer PCR technique to detect SNP of KLOTHO gene.

目的：(1)建立使用等位基因特异性引物方法检测KLOTHO基因单核苷酸多态性的PCR反应体系。

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