LESCH-NYHAN VARIANT SYNDROME: REAL-TIME RT-PCR FOR mRNA QUANTIFICATION IN VARIABLE PRESENTATION IN THREE AFFECTED FAMILY MEMBERS

被引：10

作者：

Khue Vu Nguyen ^{[1
,2
]}

Naviaux, Robert K. ^{[1
,2
]}

Paik, Kacie K. ^{[1
]}

Nakayama, Tomohiro ^{[1
]}

Nyhan, William L. ^{[2
]}

机构：

[1] Univ Calif San Diego, Sch Med, Dept Med Biochem Genet & Metab, Mitochondrial & Metab Dis Ctr, San Diego, CA 92103 USA

[2] Univ Calif San Diego, Sch Med, Dept Pediat, La Jolla, CA 92093 USA

来源：

NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS | 2012年 / 31卷 / 08期

关键词：

Lesch-Nyhan syndrome; Lesch-Nyhan variants; HPRT; mutation; PCR; real-time RT-PCR; sequencing; HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE; NUCLEOTIDE PROBES; QUANTITATIVE-DETERMINATION; TRANSFERASE DEFICIENCY; ELISA PROCEDURE; HPRT; DIAGNOSIS; DNA; ERYTHROCYTES; EXPRESSION;

D O I：

10.1080/15257770.2012.714028

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Inherited mutations of hypoxanthine guanine phosphoribosyltransferase (HPRT) give rise to Lesch-Nyhan syndrome (LNS) or variants (LNV). We report molecular insights from real-time RT-PCR for HPRT mRNA quantification into the mechanism by which a single mutation located in exon 7 of the HPRT gene: c.500G>T, p.R167M, led to different clinical phenotypes from three male LNV-affected patients in the same family manifesting parallel differences in enzymatic activities. This approach can be applied for understanding genotype-phenotype correlations for other human genetic diseases.

引用

页码：616 / 629

页数：14

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