Grompe M, al-Dhalimy M
Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland 97201.
Hum Mutat. 1993;2(2):85-93. doi: 10.1002/humu.1380020205.
Tyrosinemia type I is an autosomal recessive inborn error of metabolism caused by deficiency of the enzyme fumaryl acetoacetate hydrolase (FAH, EC 3.7.1.2). We have used reverse transcription and the polymerize chain reaction to amplify the peptide coding region of the FAH cDNA from four patients with tyrosinemia type I. Chemical mismatch cleavage analysis and DNA sequencing were utilized to determine mutant alleles in all cases. A French Canadian patient was homozygous for a splice error mutation in the 3' portion of the gene. A second patient, from a consanguineous pedigree in Iran, had the identical splice alteration. The third patient has a missense mutation, changing valine to glycine in codon 166. And finally two nonsense mutations in codons 357 and 364 were found in the fourth patient.
I型酪氨酸血症是一种常染色体隐性遗传的先天性代谢紊乱疾病，由富马酰乙酰乙酸水解酶（FAH，EC 3.7.1.2）缺乏引起。我们使用逆转录和聚合酶链反应从4例I型酪氨酸血症患者中扩增FAH cDNA的肽编码区。在所有病例中均采用化学错配切割分析和DNA测序来确定突变等位基因。一名法裔加拿大患者在该基因3'部分存在剪接错误突变的纯合子。第二名患者来自伊朗的一个近亲家系，有相同的剪接改变。第三名患者有一个错义突变，使密码子166中的缬氨酸变为甘氨酸。最后，在第四名患者中发现了密码子357和364中的两个无义突变。
