A novel de novo mutation in HPRT gene responsible for Lesch-Nyhan syndrome (HPRTosaka)
A novel de novo mutation in HPRT gene responsible for Lesch-Nyhan syndrome (HPRTosaka)
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HPRT 基因中一种新的从头突变导致 Lesch-Nyhan 综合征 (HPRTosaka)
DOI：
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发表时间：
1996
期刊：
影响因子：
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通讯作者：
N. Ogasawara
中科院分区：
文献类型：
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作者：
Yasukazu Yamada;H. Goto;M. Shiomi;Tetsuya Yamamoto;K. Higashino;N. Ogasawara
次黄嘌呤鸟嘌呤磷酸核糖转移酶（HPRT）几乎完全缺乏导致Lesch-Nyhan综合征。利用外周血细胞的mRNA和基因组DNA鉴定了一个日本Lesch-Nyhan家族的HPRT基因的新突变。外显子3中T到C的单核苷酸取代导致密码子65处的错义突变，CTC（Leu）到CCC（Pro）。利用突变中丢失的MnlI限制性位点作为指示剂，一项家族研究表明，母亲是正常的，没有突变基因。该突变是在胎儿发育早期发生在母亲或先证者生殖细胞中的新生事件。
SummaryA virtually complete deficiency of hypoxanthine guanine phosphoribosyltransferase (HPRT) causes Lesch-Nyhan syndrome. A novel mutation of HPRT gene in a Japanese Lesch-Nyhan family has been identified using mRNA and genomic DNA from peripheral blood cells. A single nucleotide substitution of T to C in exon 3 resulted in a mis-sensemutation, CTC (Leu) to CCC (Pro), at codon 65. Utilizing an MnlI restriction site which was lost in the mutation as an indicator,a family study showed that the mother was normal not having the mutant gene. The mutation was a de novo event that had occurred in the germ cells of the mother or in the proband during the early phase of fetal development.