遗传性非息肉病性结直肠癌的家系和染色体脆性部位研究  

Studies of family history and cytogenetics on hereditary nonpolyposis colorectal cancer.

作　　者：刘合代[1] 戴玉景[1] 

机构地区：[1]兰州医学院解剖教研室人类学研究室

出　　处：《中国优生与遗传杂志》2001年第5期39-41,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的 :报道一个遗传性非息肉病性结直肠癌的家系和细胞遗传学特征。方法 :家系调查通过查阅患者病历 ,走访经治医生和知情成员所获得。细胞遗传学研究采用了外周血淋巴细胞脆性部位培养技术和G显带分析方法。结果 :该家族患者符合阿姆斯特丹诊断标难 ,先证者祖父母后代发病呈常染色体显性遗传 ,致病基因来源于先证者祖母。细胞遗传学研究显示 9例成员染色体异常率高达 5 5 .6% ,其中 1例正常成员亦检到脆性部位 ,是重点监测和随访的末病对象 ;表现为显性遗传的先证者祖父母后代 5例成员与 5例患者染色体异常率均达 80 % ( 4 /5 )。结论 :,根据系谱中发病规律和患者很高的染色体脆性部位检出率为该家族成员的发病预测、筛查、早诊断、早治疗具有简便、实用、经济的特点和应用价值 。Objective:To study the characters of family history and cytogenetics on a kindred family of hereditary nonpolyposis colorectal cancer(HNPCC).Methods:Family tree was gained by reviewing the disease histories of HNPCC Patients and counseling doctors and the family remembers.In cytogenetics,chromosomal fragile site(FS)analysis was used on chromosome of lymphocyte in peripheral blood.Results:The diagnosis of HNPCC is same with ICG-HNPCC.This kindred is autosomal dominant inheritance (AD).The causative gene mutation came from the first HNPPC patient's grandmother.The members of subjects whose chromosomes are abnormal about 55.6% and a normal member had been found FS.5 cases with HNPCC were tested whose chromosomal FSrate is 80%,so is the AD member of subjects.Conclusion:The disease regulations are deduced by depending on family tree and the high-risk membetrs could be found by chromosomal FS testing.Thus,it is likely that at least half the members will be able to avoid screening again and again,some deaths from cancer should be prevented,and the cost of preventing and treating cancer in the kindred should fall substantially.

关 键 词：遗传性 非肉息病性 结直肠癌 家系 细胞遗传学 脆性部位 

分 类 号：R735.34[医药卫生—肿瘤]