赤灵芝的致突变性试验

使用赤灵芝的水提取液、乙醇（３０％）提取液进行鼠伤寒沙门氏菌回复、小鼠骨髓多染红细胞微核和雄小鼠精子畸变等三种致突变试验。剂量为１０００μｇ．皿＾－１和５０００μｇ／皿＾－１的鼠伤寒沙门氏菌回复试验的结果为阴性。小鼠在服用７５００ｍｇ．ｋｇ＾－１的水提取液或２５００ｍｇ．ｋｇ＾－１的醇提取液时，微核试验和精子畸变试验结果均为阴性。     

Recurrent pregnancy loss due to familial and non-familial habitual molar pregnancy.

OBJECTIVES: To present a series of women with recurrent molar pregnancies, including rare familial cases, and discuss etiology and treatment options. METHODS: We performed a detailed clinical evaluation and pedigree analysis of five Egyptian women with recurrent pregnancy loss due to molar pregnancy. RESULTS: The women had a history of four to nine consecutive hydatidiform moles but of no viable pregnancies. Two of the women had molar pregnancies with different husbands who themselves had viable offspring from previous wives; and three of them, who belonged to a family with extensive intermarriage, had a pedigree consistent with an autosomal recessive maternal-effect mutation. CONCLUSIONS: Recurrent pregnancy loss due to habitual molar pregnancy is uncommon and familial cases are extremely rare. The etiology of this disorder is not well understood but likely results from a maternal-effect mutation. Management options are limited, especially for couples who desire to have their own genetic offspring.     

Frontotemporal dementia and parkinsonism linked to chromosome 17 with the N279K tau mutation

We present a case of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP‐17) harboring the N279K mutation in the MAPT gene from the family known as pallido‐ponto‐nigral degeneration (PPND). This 49‐year‐old man was followed for 17 years. He presented at age 41 years with left leg stiffness and en‐bloc turning. During the course of his illness he developed a constellation of symptoms including parkinsonism, pyramidal signs, vertical gaze palsy, dysphagia, dystonia, personality and cognitive dysfunction, weight loss and mutism. Gross neuropathological examination showed mild atrophy of the cerebral cortex, hippocampal formation, amygdala, thalamus, subthalamic nucleus and depigmentation of the substantia nigra. Microscopy revealed neuronal loss and gliosis in the same regions. Tau immunohistochemistry showed pretangles, numerous threads, grain‐like structures and oligodendroglial tau‐positive inclusions (“coiled bodies”). In the spinal cord the tau pathology was more abundant in gray than white matter. Pretangles and threads were present in the anterior and, to a lesser extent, in the posterior horns. FTDP‐17 should be suspected in patients with a history of familial parkinsonism combined with behavioral and cognitive changes, onset before age 65 years and an aggressive clinical course.     

高产、大分子透明质酸突变菌株NUF-036的选育

对兽疫链球菌NUF-035进行紫外诱变,得到突变菌株NUF-036,使透明质酸的产量从1.8 g/L提高到3.0 g/L,相对分子质量从2.1×10~6提高到3.2×10~6,突变株经多次传代,透明质酸产量及相对分子质量保持稳定.     

基因定量检测方法研究进展

基因定量检测已经成为研究基因组变异以及由于基因重组所引起的相关疾病的重要手段。大片段的基因组的重复和缺失可以引起致病突变。使用PCR和测序等定性检测方法很难探测到杂合状态的缺失和重复,因此探寻高效、可靠、灵敏的基因定量检测方法是当务之急。在过去的几年中已经相继出现了一些自动高效的技术方法。现在可用的基因定量方法大致可以分成3类:DNA印迹技术,细胞遗传学方法和以PCR扩增为基础的定量。本文对基因定量的最新进展作一综述,探讨其优缺点以期对定量研究方法的选择有所帮助。     

东方人苯丙酮尿症的分子遗传学—苯丙氨酸羟化酶基因中一终止突变与单体型4的连锁不平衡性

应用聚合酶链反应(PCR)方法扩增苯丙氨酸羟化酶(PAH)基因的每个外显子及其侧翼的内含子,并克隆到M 13载体中进行序列分析。发现中国人苯丙酮尿症(Phenylketonuria,PKU)患者的PAH基因外显子3中有1个Arg~(111)→Ter~(111)的点突变,此突变与东方人最常见的突变单体型4呈连锁不平衡。此突变占中国人PAH等位基因的10％左右,但不存在于高加索人群中,表明在种族分化过程中PAH基因位点发生了互不相关的突变事件。     

聚合酶链反应-单链构象多态性分析在家族性高胆固醇血症研究中的应用

目的：探讨聚合酶链反应－单链构象多态性分析（polymerase chain reaction-single strand conformation polymorphism，PCR－SSCP）在家族性高胆固醇血症（familial hypercholesterolemia,FH)研究中的应用价值。方法：提取FH患者外周血基因组DNA，进行PCR－SSCP及DNA序列分析。结果：对1家2例临床诊断为FH的患儿及其父母从基因水平明确了诊断。LDL受体基因突变是位于第6外显子的移框突变，结论：PCR－SSCCP可以从基因水平对FH患者明确诊断，并可对先证者家族系成员早期诊断，以便提供咨询和指导。     

Point mutation in the parkin gene on patients with Parkinson’s disease

Summary To investigate the distribution of possible novel mutations from parkin gene in variant subset of patients with Parkinson’s disease (PD) in China and explore whether parkin gene plays an important role in the pathogenesis of PD, 70 patients were divided into early-onset group and late-onset group; 70 healthy subjects were included as controls. Genomic DNA from 70 normal controls and from those of PD patients were extracted from peripheral blood leukocytes by using standard procedures. Mutations of parkin gene (exon 1–12) in all the subjects were screened by PCR-single strand conformation polymorphism (SSCP), and further sequencing was performed in the samples with abnormal SSCP results, in order to confirm the mutation and its location. A new missense mutation Gly284Arg in a patient and 3 abnormal bands in SSCP electrophoresis from samples of another 3 patients were found. All the DNA variants were sourced from the samples of the patients with early-onset PD. It was concluded that Parkin point mutation also partially contributes to the development of early-onset Parkinson’s disease in Chinese. WANG Tao, male, born in 1961, Associate Professor This work was supported by grants from the key program of the special scientific project of Scientific & Technologic Agency of Hubei Province (Serial No. 2001AA308B01) and the Hygienic Research Project of Hygienic Agency of Hubei province (Serial No. WJ 01529).     

慢性乙型肝炎表面抗原携带者前S1基因的高度异质性

应用半巢式聚合酶链式反应（ＰＣＲ）从一例慢性ＨＢｓＡｇ携带者血清中扩增出ＨＢＶ前Ｓ１基因，将其克隆于噬菌体Ｍ１３ｍｐ１９中进行序列分析。结果发现：与同源性最好的ＨＢＶａｄｒ野生林相比，所测的１０个克隆均有替代和插入突变，９个克隆有缺失突变，１０个克隆的核苷酸变异率为５．０％－１７．０％，氨基酸的变异率为１３．０－６０．０％；１０个克隆之间的核苷酸变异率为２．３％－２４．３％，氨基酸的变异率为１４．     

大肠癌组织p53基因突变及其与临床病理关系的探讨

应用非同位素标记ＰＣＲ－ＳＳＣＰ技术对３４例大肠癌组织ｐ５３基因第五外显子突变进行了检测。结果：５０％（１１／２２）结肠癌，８．３％（１／１２）直肠癌存在ｐ５３基因突变，低分化腺癌高于高、中分化腺癌（Ｐ＜０．０５），ＤｕｋｅｓＢ、Ｃ期高于ＤｕｋｅｓＡ期（Ｐ＜０．０５），ｐ５３基因第五外显子突变在已发生淋巴转移的大肠癌组织中呈现较强的趋势。提示：检测结肠癌原发灶ｐ５３基因第五外显子突变，对指导结肠癌的诊断、治疗及预后判断具有一定意义