A newly recognized point mutation in the cytochrome b558 heavy chain gene replacing alanine57 by glutamic acid,in a patient with cytochrome b positive X-linked chronic granulomatous disease

Molecular genetic analysis was performed in a patient with cytochrome b positive X-linked chronic granulomatous disease. A previous Southern blot study, using a cytochrome b heavy chain cDNA as probe, revealed a Pst I restriction fragment pattern for the cytochrome b heavy chain gene (CYBB) different to that of normal individuals. Since restriction length polymorphism with Pst I has never been observed in control individuals and no abnormal restriction fragment patterns in the patient's CYBB was detected with seven other enzymes used, we focussed on the single Pst I site in the CYBB cDNA as being the only mutation site responsible for his disease. A fragment of the patient's cDNA which included the Pst I site was amplified by reverse polymerase chain reaction, and loss of the Pst I site in the fragment was confirmed by incubation with Pst I. Subsequent sequence analysis of the fragment revealed a point mutation in the Pst I site (cytosine to adenine), substituting glutamic acid for alanine at position 57.     

人类乳头瘤病毒16,18型,p53基因与胃癌

３０例新鲜胃癌标本，采用多聚酶链反应技术检测人类乳头瘤病毒１６、１８感染、并采用多聚酶链反应－单链构象多态性技术对ｐ５３基因突变进行检测。结果：ＨＰＶ１５阳性率为４０．０％，未发现ＨＰＶ１８感染：Ｐ５３基因突变率为５０．０％，ＨＰＶ１６感染和Ｐ５３基因突变同时存在者为１６．７％。     

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 sub-set of patients with Parkinson’s disease(PD)in China and explore whether parkin gene plays an im-portant role in the pathogenesis of PD,70 patients were divided into early-onset group and late-onsetgroup; 70 healthy subjects were included as controls.Genomic DNA from 70 normal controls andfrom those of PD patients were extracted from peripheral blood leukocytes by using standard proce-dures.Mutations of parkin gene(exon 1—12)in all the subjects were screened by PCR-single strandconformation polymorphism(SSCP),and further sequencing was performed in tue samples with ab-normal SSCP results,in order to confirm the mutation and its location.A new missense mutationGly284Arg in a patient and 3 abnormal bands in SSCP electrophoresis from samples of another 3 pa-tients were found.All the DNA variants were sourced from the samples of the patients with early-on-set PD.It was concluded that Parkin point mutation a     

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.