目的:观察经后腹腔镜肾囊肿去顶减压术治疗常染色体显性遗传性多囊肾病的临床效果。方法:2004~2007年经后腹腔镜囊肿去顶减压术治疗成人型多囊肾20例，术后随访6~36月，观察手术前后肾功能指标变化术后。结果:20例手术均获成功。平均手术时间71.0±5.28分钟，术后平均住院天数5±0.38天。结论:经后腹腔镜囊肿去顶减压术治疗多囊肾具有创伤小、出血少、恢复快等优点，是外科治疗成人型多囊肾安全有效的方法。
目的：调查6个短串联重复（short tandem repeat，STR）基因座在中国四川成都汉族人群中的基因频率分布。方法：应用四色荧光标记引物复合扩增技术对260名成都汉族无关个体的血样6个STR基因座进行多态性研究。结果：在四川成都汉族人群中6个STR基因座个体识别机率PD为0.796～0.913，杂合度HO为0.627～0.796，多态信息含量PIC为0.57～0.75。6个STR基因座PD总值为0.999 995 97。所有基因座经卡方检验符合Hard-Weinberg平衡。结论：上述6个STR基因座在成都汉族人群中等位基因分布较好，个体识别率高，适合法医个体识别和亲子鉴定。
Objective To investigate the relationship between the expressions of mismatch repair （MMR） genes （include hMLH1 and hMSH2） and clinicopathological features and prognosis of hereditary nonpolyposis colorectal cancer （HNPCC）. Methods Immunohistochemistry method （Elivision-two step） was used to test expressions of hMLH1 and hMSH2 proteins （both hMLH1 and hMSH2 protein-positive delimited as MMR protein-positive） in 48 patients with HNPCCaccording to revised Bethesda guidelines， and analyzed the relationship between the expression of MMR protein and clinicopathological features and prognosis of HNPCC. Results Loss rate of hMLH1 protein （20.83%，10/48） was signi-ficantly higher than that of hMSH2 protein （8.33%，4/48）， Ρ＜0.05， and positive expression rate of MMR protein was 70.83% （34/48）. Expression of MMR protein was related with tumor infiltration depth （Ρ＜0.05）. Survival rate of patients with expression and without expression of MMR protein was 85.29% （29/34） and 85.71% （12/14）， respectively， the survival curves of them didn’t significantly differed from each other （Ρ＞0.05）. Conclusions Loss rate of hMLH1 protein is higher than that of hMSH2 protein. Expre ssions of hMLH1 and hMSH2 protein are related with tumor infiltration depth， but not related with prognosis.
Objective To study the basic and clinical achievements in diagnosis and therapy of hereditary pancreatitis. Methods Related literatures of recent years were reviewed. Results Hereditary pancreatitis was a rare type of pancreatitis, with an estimated penetrance of 80%, and was believed to be caused by a mutation in the cationic trypsinogen gene. Patients with hereditary pancreatitis had a high frequency of pancreatic cancer.Conclusion The progress has been made on hereditary pancreatitis and has given us many useful suggestions for a better understanding about this difficult medical problem.
Cytogenetic study of 18 colorectal carcinomas confirmed the extensive heterogeneity and the complexity of the karyotypic picture in this tumor.Karyotypic analysis showed that chromosomes 7 and 3 were of the highest chromosomal gaining frequencies(72%,66%) and chromosomal losses were shown in chromosome 17(50%),chromosome5(44%) and chromosome 18(33%).The structual rearrangements frequently involved were 17p(78%),5q(61%),6q,7q,8p,12q,2p,etc.A great number of marker chromosomes and polyploid chromosomes had bad prognosis relatively.According to these results,we conclude that chromosomes 17,5,and 18 may play an important role in the evolution of colorectal cancer.
Objective To review the relationshi p between heritable hypercoagulable state (HHCS) and avascular necrosis of femoral head (ANFH). Methods The latest original articles about the relationshi p between HHCS and ANFH were extensively reviewed. Results Several genetic mutations which could cause HHCS, such as thrombophilic factor V G1691A gene, thrombophilic factor II G20210A gene, 5, 10-methylenetetrahydrofolate reductase C677T gene, plasminogen activator inhibitor 1 4G/5G, and tissue factor pathway inhibitor gene, may be genetic risks of ANFH. Conclusion HHCS may be a genetic cause of ANFH. Further studies are needed to confirm the relationship between HHCS and Chinese ANFH.
Objective To investigate the relationship between p53 codon 72 polymorphism and susceptibility to keloid. Methods The p53 genotypes were detected by polymerase chain reactionreverse dot blot(PCRRDB) and DNA direct sequencing among 15 healthy controls and 15 patients with keloid. Results The frequency of the Proallele(P=0.035) and Pro/Pro genotype(P=0.030) in patients was significantly higher than that in the controlls. There was no significant difference in the frequency of Pro/Arg and Arg/Arg genotypes between patients and controls. Conclusion The p53 gene codon 72 polymorphism may play a role in susceptibility to keloid.
Objective To observe the molecular genetic characteristics of seven Chinese families with Leberprime;s hereditary optic neuropathy (LHON). Methods Ophthalmologic examinations were performed on seven probands, maternal members from seven Chinese families and 134 healthy controls. There were two LHON patients in seven Chinese families except probands. The entire mitochondrial genome was amplified using 24 pairs of oligonucleotide primers with overlapping fragments.The mutational site was analyzed through comparison of the Results and Cambridge reference sequence. The penetrance of mutation site was calculated and the haplotype was analyzed. Results Molecular analysis of mitochondrial DNA (mtDNA) in these pedigrees revealed the absence of three common LHON associated with ND4 G11778A, ND1 G3460A and ND6 T14484C mutations. The ND1 T3394C mutation in probands and other matrilineal relatives was present in four out of 134 Chinese healthy controls. Strikingly, these families exhibited very low penetrance of visual impairment. The penetrance was 12.50%, 22.22%, 16.76%, 6.25%, 9.09%, 11.11% and 28.57%. The Results of phylogenetic tree analysis of submitochondrial haplotype showed that these mtDNA polymorphism sites belong to the Asian haplogroups M9, M9, M, D4, M, M9 and M9. Conclusions T3394C mutation exists in seven Chinese LHON pedigrees, and the penetrance was ranged from 6.25% to 28.57%. The patients have different clinical manifestations.
Objective To find the new mutations of Leber's hereditary optic neuropathy (LHON). Methods Two LHON families were enrolled in this study. The probands and all maternal members in this two families were underwent ophthalmologic examinations. The ages of probands were seven and 14 years old respectively. A total of 358 healthy adults were enrolled in this study as control group. The genomic DNA from whole blood of participants were extracted. The entire mitochondrial genome of probands were PCR amplified and sequenced in 24 overlapping fragments using primers as designed. At the same time, the mtDNA of maternal relatives and 358 controls were also detected. Fourteen primate species were selected from GenBank to analyzed the phylogenetics of mitochondrial sequence. Results There was no ND4 G11778A, ND1 G3460A, ND6 T14484C mutational site in all maternal members. Molecular analysis of mtDNA in this two families identified the homoplasmic tRNAGluA14683G mutation and distinct set of variants belonging to the Asian haplogroup F1a1 and G2. The site was at theTpsi;C stem oftRNAGlu and extremely conserved among 14 primate species. It was anticipated that the A14683G increased the highly conserved C-G basepairing. Furthermore, the A14683G was absence in control group. Conclusion The tRNAGluA14683G mutation is likely a new mutation associated with LHON.