CAJ | 학술논문

目的检测3例痒疹样营养不良型大疱性表皮松解症患者的COL7A1基因突变情况.方法收集3例患者临床资料,取患者皮损行透射电镜检查.提取3例患者及其相关亲属外周血DNA,应用PCR扩增COL7A1基因的全部外显子及其侧翼序列并测序.结果病例1及2有家族史,病例3为散发患者.病例1和3皮损透射电镜显示部分区域锚纤维丝轻度减少,病例1可见致密板下裂隙.病例1、2、3的COL7A1基因分别出现c.G6734T、c.G6859A及c.G5318T杂合突变,导致编码氨基酸发生p.G2245V、p.G2287R和p.G1773V突变.突变在病例1和2家族中的患者均呈现共分离现象.病例3父母未带有类似突变.150例无关正常人对照均未发现这三种突变.结论 COL7A1的p.G2245V、p.G2287R和p.G1773V甘氨酸替代突变可能是引起这3例痒疹样营养不良型大疱性表皮松解症患者临床表型的病因,其中p.G2245V、p.G1773V为两种未报道过的新突变.
목적 검측3례양진양영양불량형대포성표피송해증환자적COL7A1기인돌변정황.방법 수집3례환자림상자료,취환자피손행투사전경검사.제취3례환자급기상관친속외주혈DNA,응용PCR확증COL7A1기인적전부외현자급기측익서렬병측서.결과 병례1급2유가족사,병례3위산발환자.병례1화3피손투사전경현시부분구역묘섬유사경도감소,병례1가견치밀판하렬극.병례1、2、3적COL7A1기인분별출현c.G6734T、c.G6859A급c.G5318T잡합돌변,도치편마안기산발생p.G2245V、p.G2287R화p.G1773V돌변.돌변재병례1화2가족중적환자균정현공분리현상.병례3부모미대유유사돌변.150례무관정상인대조균미발현저삼충돌변.결론 COL7A1적p.G2245V、p.G2287R화p.G1773V감안산체대돌변가능시인기저3례양진양영양불량형대포성표피송해증환자림상표형적병인,기중p.G2245V、p.G1773V위량충미보도과적신돌변.
Objective To detect the mutations of COL7A1 gene in three cases of dystrophic epidermolysis bullosa pruriginosa (DEBP). Methods Clinical data were collected from 3 patients with DEBP. Skin lesions were obtained from these patients and subjected to transmission electron microscopy. DNA was extracted from the peripheral blood of the 3 patients, their 16 relatives, and 150 unrelated normal human controls, and PCR was performed to amplify all the exons and flanking sequences of COL7A1 gene followed by sequencing.Results The patient 1 and 2 had family history, whereas the case 3 was sporadic. Transmission electron microscopy showed tissue cleavage beneath lamina densa in case 1 and slightly decreased anchoring fibrils in some areas of the lesions in case 1 and 3. Three heterozygous mutations of COL7A1 gene, i.e., c. G6734T, c.G6859A and c. G5318T, which leaded to three amino acid mutations, i.e., p. G2245V, p. G1773V and p. G2287R, were found in patient 1, 2 and 3 respectively. Of them, p. G2245V and p. G1773V were novel mutations. The mutations strictly cosegregated with the phenotype in the patients of family 1 and 2. No mutation was detected in the unaffected parents of patient 3 or the 150 unrelated healthy controls. Conclusions The p. G2245V, p. G2287Rand p. G1773V mutations of COL7A1 gene may be responsible for the phenotype of DEBP in the three cases,and of them, p. G2245V and p. G1773V have never been reported.