avellino角膜营养不良家系的βigh3基因突变分析 word格式.docxVIP

Avellino 角膜营养不良家系的βIGH3 基因突变研究摘 要目的：研究 Avellino 角膜营养不良（Avellino corneal dystrophy, ACD）一个家系的临床 表现及其βIGH3 基因突变的类型。方法：采集该家系 5 代 75 人病史，按顺序进行视力、裂隙灯显微镜、外眼照相、眼底、 眼前节光学相干断层扫描（anterior segment optical coherence tomography, AS-OCT） 检查，应用聚合酶链反应(polymerase chain reaction，PCR)并结合 DNA 测序技术进 行βIGH3 基因第 4、11 和 12 外显子突变的检测。结果：该家系成员 5 代 75 人，包括 22 例患者和 53 例正常人，发病率为 44.89%。22例患者中现存 18 例，平均年龄为 44.39±11.68 岁。该家系患者共同特点：双眼受累， 表现为反复的眼痛、眼红、畏光、视力下降等症状，出现视力下降的平均年龄为 23.17±8.56 岁，随年龄的增加角膜混浊程度及视力下降逐渐加重，50 岁后视力均在0.1 以下。ACD 临床特征为角膜基质层颗粒状及格子状混浊。AS-OCT 显示角膜病 灶位于角膜上皮层及浅、中基质层。基因检测发现该家系患者βIGH3 基因第 4 外显 子 370 位点碱基 C→T，即 R124C 突变。家系中正常成员无该位点的基因突变。结论：R124C 突变与 ACD 的发生有关，该基因的突变可导致不同类型角膜营养不良的 发生。关键词：Avellino 角膜营养不； βIGH3 基因；R124C；基因突变Study of TGFBI Gene Mutation in a Chinese Pedigree with Avellino Corneal DystrophyAbstractObjective：To study the clinical manifestations and the molecular defects in the βIGH3 gene in a Chinese family with Avellino Corneal dystrophy ( ACD ).Methods：Five generations (75 subjects) of the family with ACD were enrolled in the present study. A detailed family history was collected. All subjects were underwent the examinations sequentially as follows: vision activity, slit lamp microscope examination, ocular fundus examination and anterior segment optical coherence tomography (AS-OCT). Polymerase chain reaction (PCR) amplification and nucleotide sequencing of exons 4, 11 and 12 of βIGH3 were performed.Results：The number of family is 75 members in 5 generations, including 22 patients and 53 normal persons. The morbidity is 44.89% (picture 1). 18 in 22 patients which mean age was 44.39 + 11.68 years old exist today. the The patients in the family have a common characteristics: both eyes appear eye pain, photophobia, decreased visual acuity, red repeatedly. The average age when the vision began decreasing was 23.17 + 8.56 years. With the increase of age, the degree of corneal opacity and decreased visual acuity increased gradually after 50 years old, eyesight is below 0.1.The cli