Maksimova Nadezda R, Gurinova Elizaveta E, Sukhomyasova Aitalina L, Danilova Anastasia L, Kaimonov Vladimir S, Savvina Mira T, Yakovleva Aleksandra E, Alekseeva Elena I
Federal State Autonomous Educational Institution Of Higher Professional Education "North-Eastern Federal University Named M.K. Ammosov", Yakutsk,
State Budget Organization Of The Republic Of Sakha (Yakutia) "Republican Hospital No. 1 - National Center Of Medicine", Yakutsk.
Wiad Lek. 2016;69(2 Pt 2):295-8.
Tyrosinemia type 1 (HT1) (OM IM 276700) is an inborn error of tyrosine catabolism caused be fumarylacetoacetate hedralase deficiency (FAH). In tyrosinemia type I, dietary therapy and nitisinone (Orfandin®), liver transplantation are effective .
We present here the first report on identification of FAH mutation in HT1 Yakut patient from Russia with a novel one.
The material for the clinical study is based on the genetic data of the patient card with tyrosinemia type 1, which is observed in the medical-genetic consultations Republican Hospital №1-National Medical Center of the Republic of Sakha (Yakutia). For molecular genetic analysis has been used venous whole blood, taken with the written consent from the patient, his relatives and 200 healthy Yakuts. All regions of the FAH gene spanning exons were amplified by PCR and mutational analyses was carried out by direct sequencing. Results of sequencing were confirmed by restriction fragment length polymorphism (PCR-RELF) analyses.
1 one-year-old child was identified with a diagnosis hereditary tyrosinemia type Ia, acute form. In exon 13 of the FAH gene a novel mutation c.1090 G>C (GLu364GLn) in the homozygous state was found in patient, and in heterozygous state in both parents. The child is treated Nitisinone therapy. DNA diagnostics of c.1090 G>C mutation frequency in the FAH gene was conducted using PCR and RFLP analysis in 200 unrelated Yakuts. The frequency of heterozygous carrier was 1.0%.
1型酪氨酸血症（HT1）（OMIM 276700）是一种由于延胡索酰乙酰乙酸水解酶（FAH）缺乏引起的酪氨酸分解代谢先天性缺陷。在1型酪氨酸血症中，饮食疗法和尼替西农（奥芬定®）、肝移植是有效的。
我们在此首次报告对一名来自俄罗斯雅库特的HT1患者的FAH突变进行鉴定，并发现了一个新的突变。
临床研究材料基于1型酪氨酸血症患者病历的基因数据，该患者在萨哈共和国（雅库特）第一国立医院 - 国家医疗中心的医学遗传咨询中被观察到。用于分子遗传分析的是静脉全血，在获得患者、其亲属和200名健康雅库特人的书面同意后采集。通过PCR扩增FAH基因跨越外显子的所有区域，并通过直接测序进行突变分析。测序结果通过限制性片段长度多态性（PCR-RELF）分析进行确认。
一名1岁儿童被诊断为遗传性1a型酪氨酸血症，急性型。在患者的FAH基因第13外显子中发现了一个纯合状态的新突变c.1090 G>C（Glu364Gln），其父母均为杂合状态。该儿童接受尼替西农治疗。使用PCR和RFLP分析对200名无关雅库特人中FAH基因c.1090 G>C突变频率进行DNA诊断。杂合携带者频率为1.0%。
