CAJ | 학술논문

目的研究一X连锁先天性角化不良(dyskeratosis congenita,DC)家系患者端粒长度与临床表型轻重关系.方法采用荧光定量PCR方法,对DC患者、DC家系正常人、正常对照组进行端粒长度测量,结果进行两样本间的t检验.同时对患者进行全身体格检查和血液学、肺通气等实验室检查.结果此家系DC患者、家系正常人与正常对照组相比端粒长度差异无统计学意义(t =0.827,P＞0.05),患者实验室检查未见异常.结论此家系DC患者端粒长度与正常对照组相比差异无统计学意义.患者临床表型为轻型.
목적 연구일X련쇄선천성각화불량(dyskeratosis congenita,DC)가계환자단립장도여림상표형경중관계.방법 채용형광정량PCR방법,대DC환자、DC가계정상인、정상대조조진행단립장도측량,결과진행량양본간적t검험.동시대환자진행전신체격검사화혈액학、폐통기등실험실검사.결과 차가계DC환자、가계정상인여정상대조조상비단립장도차이무통계학의의(t =0.827,P＞0.05),환자실험실검사미견이상.결론 차가계DC환자단립장도여정상대조조상비차이무통계학의의.환자림상표형위경형.
Objective To investigate the relationship between telomere length and phenotype of patients with X-linked dyskeratosis congenita ( DC ) in a Chinese family.Method Telomere lengths were measured by fluorescent quantitative polymerase chain reaction ( PCR ).We studied patients with dyskeratosis congenita,unaffected relatives in the family and control subjects.Analysis was carried out by Ttest.Physical examination,hematological study and lung function of all affected subjects were also documented.Results There was no significant difference in the telomere length among patients,the control subjects and the unaffected relatives ( t =0.827,P ＞ 0.05 ).Laboratory examinations of patients were normal.Conclusion There is no length change of telomere in the patients with dykseratosis congenita.