CAJ | 학술논문

目的：分析1例单纯男性化型21-羟化酶缺乏症（21-OHD）基因突变特点与临床表型的关系，探讨其激素治疗的必要性。方法收集患者的临床资料，提取患者外周血DNA，用PCR扩增和DNA测序方法鉴定CYP21A2基因突变位点，并与NCBI网站和人类细胞色素P450（CYP）相关的CYP21A2基因突变数据库比对，进一步分析患者基因突变特点与临床表型的关系。结果患者主要表现为外生殖器男性化和声音低沉。基因测序结果显示为复合杂合突变，一个等位基因为T518 A突变，导致I172 N错义突变；另一个等位基因为1451-1452 GG→C突变，导致R483框移突变，这是至今报道很少的一种罕见突变。这种复合杂合突变主要引起单纯男性化表现。结论 R483框移突变是CYP21 A2基因的一种罕见突变，从分子遗传学方面证实了对患者的诊断，也很好地解释了患者的临床表型。对于育龄期女性患者激素治疗更有必要性。
목적：분석1례단순남성화형21-간화매결핍증（21-OHD）기인돌변특점여림상표형적관계，탐토기격소치료적필요성。방법수집환자적림상자료，제취환자외주혈DNA，용PCR확증화DNA측서방법감정CYP21A2기인돌변위점，병여NCBI망참화인류세포색소P450（CYP）상관적CYP21A2기인돌변수거고비대，진일보분석환자기인돌변특점여림상표형적관계。결과환자주요표현위외생식기남성화화성음저침。기인측서결과현시위복합잡합돌변，일개등위기인위T518 A돌변，도치I172 N착의돌변；령일개등위기인위1451-1452 GG→C돌변，도치R483광이돌변，저시지금보도흔소적일충한견돌변。저충복합잡합돌변주요인기단순남성화표현。결론 R483광이돌변시CYP21 A2기인적일충한견돌변，종분자유전학방면증실료대환자적진단，야흔호지해석료환자적림상표형。대우육령기녀성환자격소치료경유필요성。
Objective To analyze the genetic characteristic and clinical phenotype of a Chinese patient with 21 hydrosylase deficiency (21-OHD), and to explore the necessity of hormone glucocorticoid therapy .Methods Collect clinical data, extracted peripheral blood DNA , amplified by PCR and DNA sequencing to identify CYP 21A2 gene mutations, and with NCBI website and human cytochrome P 450 ( CYP) CYP21A2 gene mutation associated database comparison , further analysis patients with mutations in the relationship between the characteristics and clinical phenotype .Results The patient presented with a deep voice and masculine genitalia .Gene sequencing results are shown as compound heterozygous mutation , an allele T518A mutation in I172N missense mutation;another allele for the 1451-1452GG→C mutation, resulting in R483 frameshift mutation, which is so far very few reports A rare mutation .This compound heterozygous mutation mainly caused purely mascu-line performance.Conclusion R483 frameshift mutation is a rare mutation in CYP21A2 gene from molecular genetics con-firmed the diagnosis of the patient , but also a good explanation of the clinical phenotype .For female patients of childbearing age are more necessity hormone therapy .