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HIVEP2基因相关以癫痫为主要表型的常染色体显性智力障碍43型一例并文献分析

无家族史及系统表现的双眼玻璃体淀粉样变性一例

MYT1L基因变异所致常染色体显性精神发育迟滞39型一例临床与遗传学分析

家族性玻璃体淀粉样变性甲状腺激素结合蛋白Gly83Arg突变一家系

Clinical Evidence on the Prognosis of a Patient with Gestational Diabetes Mellitus

Objective　Based on the methodology of evidence-based medicine, we explored the prognosis of a patient with gestational diabetes mellitus (GDM). Methods　We searched ACP Journal Club (1991 to October 2006), The Cochrane Library (Issue 4, 2006), MEDLINE (1990 to October 2006) and Chinese Biomedicine database (CBM). Cohort studies, case-control studies and case series studies involving the prognosis of patients with GDM were collected. The available evidence was critically appraised. Results　During the period from 6 weeks to 28 years after delivery, the incidence of type 2 diabetes mellitus appeared to vary from 2.6% to 70%. Patients with GDM suffered from an increased incidence of spontaneous premature delivery, hypertension, metabolic syndrome and vaginal infection. Conclusion　Patients with GDM appears to be more liable to overt diabetes mellitus, and to suffer fromspontaneous premature delivery, hypertension, metabolic syndrome and vaginal infection than women with normal glucose tolerance during pregnancy. Further studies of the long-term follow-up data from GDM trials are needed.

Clinical Study of Laparoscopic Decortication Therapy for Patients with Autosomal Dominant Polycystic Kidney Disease

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。

伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病合并 COL4A2 基因突变一例

Action of the dominant-negative effect on the pathogenesis of insulinopathies

ObjectiveTo explore the action of dominant-negative effect on mutant insulin gene-induced diabetes.Methods293T cells were transfected with a recombinant plasmid containing mutant preproinsulinogen complementary DNA (cDNA) and a recombinant plasmid containing human wild-type preproinsulinogen cDNA. There were 5 mutant groups which mutant preproinsulins respectively bear substitutions V(A3)L, C(A7)Y, R(SP6)H, G(B8)S or G(C28)R. Wild-type mouse preproinsulin and wild-type human preproinsulin were co-transfected as normal control group. After 48 hours, medium and cells were collected. Human proinsulin were detected by human-specific proinsulin radioimmunoassay.ResultsCompared with the control group [(135.84±1.89) pmol/L], human proinsulin levels in medium of C(A7)Y group [(29.28±6.85) pmol/L] and G(B8)S group[(33.62±10.52) pmol/L] decreased significantly (P<0.01). There was no significant difference in human proinsulin level between the other groups and the control group (P>0.05).ConclusionMutants C(A7)Y and G(B8)S induce the dominant-negative effect on co-existing wild-type proinsulin.

Search for mutations of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa

Objective To investigate whether mutations exist in codon 58 and codon 347 of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa(ADRP)． Methods Point mutations at codons 58 and 347 were detected by restriction endonuclease digestion of exons 1 and 5 amplified by polymerase chain reaction(PCR)．This method was applied to screen genomic DNAs from 57 patients of 38 families with ADRP and 60 normal controls． Results Four patients from one family of ADRP were confirmed to have a point mutation at the second nucleotide of codon 58,and 6 patients from two families of ADRP were found to have a mutation at codon 347．None of these mutations were found in 60 normal subjects． Conclusion It is suggested that molecular genetic heterogeneity exists within ADRP and some subtypes of ADRP are caused by points mutations of the rhodopsin gene． (Chin J Ocul Fundus Dis,1998,14:108-110)

常染色体显性遗传夜间额叶癫痫的基因学研究现状

常染色体显性遗传夜间额叶癫痫（Autosomal dominant nocturnal frontal lobe epilepsy，ADNFLE）首先由 Lugaresi 等描述，是第一个发现致病基因的癫痫综合征。迄今为止，已鉴定出的可能致病基因有CHRNA4、CHRNB2、CHRNA2、KCNT1、DEPDC5、CRH、CABP4，外显率 70%～80%，但已发现的基因仅能解释部分患者的病因，不同种族仍具有较大的遗传异质性。文章回顾了 ADNFLE 近几年的流行病学、临床体征、致病基因研究及基因测序技术等，为已发现的致病基因提供解释，并为未来寻找新的基因提供方向。