常染色体隐性遗传性成骨不全症的分子遗传学研究进展

成骨不全症(osteogenesis imperfecta,OI)又称脆骨症,由于遗传缺陷而引起Ⅰ型胶原结构或功能异常,表现为全身骨骼等结缔组织异常.临床特点是多发性骨折,同时可伴有巨头畸形、蓝巩膜、耳聋、牙齿改变和脊柱后侧凸等.成骨不全症不仪临床表型变异度大,而且遗传异质性高,以常染色体显件或隐性遗传方式传递,本文就常染色体隐性遗传性成骨不全症的分子遗传学研究进展加以综述.     

常染色体隐性遗传性成骨不全症的分子遗传学研究进展

成骨不全症(osteogenesis imperfecta,OI)又称脆骨症,由于遗传缺陷而引起Ⅰ型胶原结构或功能异常,表现为全身骨骼等结缔组织异常.临床特点是多发性骨折,同时可伴有巨头畸形、蓝巩膜、耳聋、牙齿改变和脊柱后侧凸等.成骨不全症不仪临床表型变异度大,而且遗传异质性高,以常染色体显件或隐性遗传方式传递,本文就常染色体隐性遗传性成骨不全症的分子遗传学研究进展加以综述.     

家族遗传性三指节拇指、并指多指综合征一例

我院于2006年11月收治1例家族遗传性三指节拇指、并指多指综合征患者,双手均累及,表现为在拇指的位置出现2个并列的具有三指节的类似大拇指结构,左拇指尺侧还并联一个拇指多指,同时在第1、2、3、4指间呈完全性并指,第3、4、5指末端指关节并联.     

北方汉族人群PAH基因STR多态性分析及PKU产前基因诊断研究

苯丙酮尿症（ＰＫＵ）是由肝脏苯丙氨酸羟化酶（ＰＡＨ）缺陷引起的常染色体隐性遗传病。临床主要表现为智力低下。研究表明，ＰＫＵ的分子基础主要是ＰＡＨ基因的点突变。到１９９６年，汇集２８个国家研究成果的ＰＡＨ基因突变数据库已登记３２０余种ＰＡＨ突变［１］。...     

济南市2003—2005年医疗机构法定传染病报告管理和漏报调查

为了解济南市传染病疫情报告情况，以便及时、准确分析疫情动态，提高疫情报告工作质量，每年将对全市各级各类医疗机构法定传染病报告管理和漏报进行调查。3年间累计调查322所次医疗机构，现将调查结果分析如下。     

差示聚合酶链式反应检测骨髓转移的神经母细胞瘤N－myc扩增及临床意义

测定骨髓转移神经母细胞瘤（ＮＢ）Ｎ－ｍｙｃ扩增情况及评价其与预后的关系。采用差示ＰＣＲ法检测１７例骨髓转移ＮＢ的Ｎ－ｍｙｃ拷贝数，并随访１年。结果，１２例（７０．５９％）证实有Ｎ－ｍｙｃ扩增。Ｎ－ｍｙｃ扩增与ＮＢ分期及患者预后均成显著相关（分别为Ｐ＜０．０５，Ｐ＜０．０１）。有Ｎ－ｍｙｃ扩增者预后差，且扩增倍数越高则预后越差。因此，Ｎ－ｍｙｃ扩增对于ＮＢ分期及预后评估均为有价值的指标，它可能与ｃ－ｍｙｃ协同调控ＮＢ的生物学特性。差示ＰＣＲ作为一种建立在内参照原理上的新方法可定量测定基因拷贝数，比Ｓｏｕｔｈｅｒｎ杂交更简便、快速、灵敏、精确，适于临床应用。尤值一提的是，该法需样品量很少，且无同位素沾染。     

A POTENTIAL TUMOR SUPPRESSOR GENE： Doc-1R

Objective: To detect the expression and the genomie sequence of Doe-1R gene in mice. Methods: The gene specific primers were designed and synthesized according to the cDNA sequence of Doe-1R gene. The sequence of Doc-1R gene was cloned by nested PCR. The expression of Doe-1R gene was examined by RT-PCR in thirteen kinds of tissues of mice. Results: The mouse Doe-1R gene has been obtained by two times genomie walking, which spans 2787bp and contains four exons and three introns. All of the splice donor/aeeeptor site sequences are in accordance with the consensus “GT-AG” rule. There was expression of Doe-1R gene in the thirteen tissues. Conclusion: Themouse Doe-1R gene was cloned successfully. The expression pattern suggests that Doe-1R gene is a housekeeping gene,which is important to keep the function of tissues and organs.     

A method to generate mature dendritic cells from cryopreserved PBMC

To established methods for cryopresserving peripheral blood mononuclear cells(PBMCs)and producing DCs from cryopresserved PBMCs.Methods:Mature DCs were generated from cryopreserved PBMCs by using IL-4,GM-CSF,TNFα,IL-1β,IL-6,pgE2 and LPS.The phenotype of the resultant DCs was investigated by flow cytometry.The functions of the resultant DCs were verified by Elispot assay.Results:The resultant DCs expressed high levels of HLA ABC,HLA DR,costimulatory molecules and the DC maturation marker CD83.The mature DCs we generated from frozen PBMCs were able to prime CD8 T cells into long term IFN-γ producing peptide specific CTL.Conclusion:The DCs we developed from cryopreserved PBMC were fully mature and had the capability to stimulate immune reaction.Thus,we developed a method to generate functional mature DC from cryopreserved PBMC.     

一个中国人并多指(趾)畸形家系中HOXD13基因突变的检测

目的 在一个中国汉族并多指(趾)畸形家系中检测HOXD13基因致病突变.方法 通过PCR扩增HOXD13基因外显子序列,对产物进行直接测序及TA克隆测序寻找致病突变.结果 在患者中发现HOXD13基因外显子1的5'末端丙氨酸重复区内,具有27bp的不完全三核苷酸重复的插入突变,使其多聚丙氨酸链延长了9个丙氨酸残基.结论 HOXD13基因内9个丙氨酸残基的延展突变为该家系的致病突变.