Human hypoxanthine-guanine phosphoribosyltransferase. Detection of a mutant allele by restriction endonuclease analysis.
Human hypoxanthine-guanine phosphoribosyltransferase. Detection of a mutant allele by restriction endonuclease analysis.
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人次黄嘌呤鸟嘌呤磷酸核糖转移酶。
DOI：
10.1172/jci111047
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发表时间：
1983
期刊：
影响因子：
--
通讯作者：
W. Kelley
中科院分区：
文献类型：
--
作者：
J. Wilson;P. Frossard;R. Nussbaum;C. Caskey;W. Kelley
我们已经开发了一种方法，用于直接分析次黄嘌呤鸟嘌呤磷酸核糖转移酶（HPRT）等位基因与酶活性的缺乏和痛风的早期发作。由该突变等位基因（HPRTToronto）编码的功能异常酶与正常酶的不同之处在于50位的甘氨酸取代为甘氨酸。精氨酸50密码子中的单个碱基变化可以解释这种取代。对该点突变的直接分析是基于观察到它消除了HPRT DNA中的Taq I识别位点。正如预测的那样，当用Taq I消化并用HPRT互补DNA探测时，来自具有HPRTToronto等位基因的个体的DNA表现出异常的限制性图谱：正常的2.0 kb片段被4.0 kb片段取代。4.0/2.0 kb限制性片段变异用于检测杂合子中的HPRT Toronto等位基因，该杂合子相对于用于诊断HPRT缺陷杂合性的经典技术是正常的。
We have developed a method for the direct analysis of a hypoxanthine-guanine phosphoribosyltransferase (HPRT) allele associated with a deficiency of enzyme activity and an early onset of gout. The functionally abnormal enzyme coded for by this mutant allele (HPRTToronto) differs from the normal enzyme by an arginine-to-glycine substitution at position 50. A single base change in the codon for arginine 50 can explain this substitution. Direct analysis of this point mutation is based on the observation that it abolishes a Taq I recognition site in HPRT DNA. As predicted, DNA from individuals with the HPRTToronto allele exhibited an abnormal restriction pattern when digested with Taq I and probed with HPRT complimentary DNA: a normal 2.0-kb fragment is replaced by a 4.0-kb fragment. The 4.0/2.0-kb restriction fragment variation was used to detect the HPRTToronto allele in a heterozygote that was otherwise normal with respect to the classical techniques used to diagnose heterozygosity in HPRT deficiency.
人次黄嘌呤鸟嘌呤磷酸核糖转移酶。
DOI：
--
发表时间：
1981
期刊：
The Journal of biological chemistry
影响因子：
--
作者：
Wilson,JM;Baugher,BW;Landa,L;Kelley,WN
通讯作者：
Kelley,WN
人腺嘌呤磷酸核糖基转移酶。
DOI：
--
发表时间：
1982
期刊：
The Journal of biological chemistry
影响因子：
--
作者：
Wilson,JM;Daddona,PE;Simmonds,HA;VanAcker,KJ;Kelley,WN
通讯作者：
Kelley,WN