130例智力低下儿童脆性X检测报告

本文采用脆性 X检测技术对130例先天性智力低下儿童进行了细胞遗传学研究,结果共发现27例具有染色体异常。其中t(5;15)及t(8;12),inv(9)两例核型,经鉴定为世界首报核型;检出5例脆性X综合征,检出率为3.77%,占异常核型的18.5%。 Abstract:The cytogenetic study was made on 130 mentally retarded children with the technique of Fra(X) detection.Among the 27 mentally retarded children with chromosomal abnormalities found in the study,the two karyotypes of t (5;15) and t (8;21),inv(9) were first reported in the literature.of the 130 mentally retarded cases,5 had fragile (X) syndrome (3.77%).The syndrome accounted for 18.5% in the abnormal karyotypes.     

优生与遗传咨询的临床研究

总结本室优生遗传咨询门诊万例病例资料,应用细胞学方法、荧光原位杂交法和分子遗传学PCR方法检出外周血染色体异常率10.30%（555/5390）,产前诊断核型异常率为6.68%（145/2171）,胎停育绒毛核型异常率45.16%（28/62）,总检出率为9.55%;PCR检测178例,正常人155例,患者23例;FISH结果：性别Y检测5例,21-三体征检测6例,均阳性。传统细胞学方法为染色体病诊断不可替代的重要手段;分子遗传学PCR方法及FISH检测方便、快速、精确,值得推广;遗传咨询,遗传病检测及产前诊断,对降低患儿出生率具有重大意义。 Clinical Research of Genetic Counseling WANG Shu-yu,WANG Su-gui,REN Guo-qing,JIA Chan-wei,MA Yan-min,XUE Hong Capital Medical University Beijing OB/GYN Hospital,Beijing 100006,China Abstract:To supply reliable materials for the assessment of recurrence risk,prenatal diagnosis and the supervision of high risk persons,we analyzed 10811 patients with the methods of cytogenetics,fluorescent in situ hybridization and molecular genetic PCR methods.The result of cytogenetics:there were 555 abnormal karyotypes of peripheral blood on 5390 cases (10.30%);In 2171 patients who asked for prenatal diagnosis,145 abnormal karyotypes were found (6.68%);We also karyotyped chorionic villous cells of 62 patients with spontaneous abortion and found 28 abnormal karyotypes (45.16%).The PCR results of 23 patients with Down's syndrome were all positive while the results of 155 normal persons were all negative.The method of cytogenetics is very important for diagnosis of abnormal karyotypes;Molecular genetic methods by PCR and FISH are quick,convenient and applicable way. Key words：genetic counseling; prenatal diagnosis; karyotypes abnormal; molecular genetics     

Angiotensin converting enzyme inhibitors and angiotensin receptor blockers improved the outcome of patients with severe COVID-19 and hypertension

正Dear Editor.Hypertension was reportedly the most common coexisting condition of COVID-19 as 15%-31.2% patients with COVID-19 had hypertension,and the incidence of hypertension reached 58.3% in COVID-19 patients requiring ICU care (Wang et al.,2020).However,it remains unclear whether combined hypertension carries an increased risk for a worse outcome in patients with COVID-19 and what clinical factors independently predict death in these patients.     

Current Status of Chromosomal Abnormalities in Mouse Embryonic Stem Cell Lines Used in Japan

Comparative Medicine, Volume 56, Issue 1, February 2006 By Ayako Sugawara, Kazuo Goto, Yusuke Sotomaru, Toshio Sofuni, and Toshio Ito
We performed chromosomal analysis on 540 mouse embryonic stem （ES） cell lines obtained during 2001 to 2004 from 20 institutions in Japan. Overall, 66.5 % of the ES cell lines showed normal chromosomal numbers, but 15.9 %, 9.1%, and 2.8% showed modal chromosomal numbers of 41, 42, and 39, respectively. When we karyotyped 88 ES cell lines selected arbitrarily from the 540 lines, 53 （60.2%） showed normal diploid karyotypes; the sex chromosome constitution of 52 lines was XY, with the remaining 1 being XX. Among 35 ES cell lines showing abnormal karyotypes, trisomy of chromosome 8 （41, XY, ＋ 8） was dominant （51.4%）, 14.3% had trisomy 8 with loss of one sex chromosome （40, XO, ＋ 8）, and 11.4% had trisomy 8 together with trisomy 11 （42, XY, ＋ 8, ＋ 11）. Karyotypic abnormalities including trisomy 8 and trisomy 11 occurred in 88.6% and 17.1% of ES cell lines, respectively. The XO sex chromosome constitution was observed in 25.7 % of all abnormal ES cell lines. Of the 88 selected ES cell lines, 60 lines were established from strain 129 animals, 17 from FI progeny of C57BL/6J × CBA （called TT2 in this study）, and 11 from C57BL/6J mice. Normal diploid karyotypes were observed in 58.3% of lines derived from 129, 58.8% of those from TT2, and 72.7% of C57BL/6J. The relatively high incidence of abnormalities in chromosomal number and karyotype in ES cell lines used in Japan suggests the importance of chromosomal analysis of ES cells for successful establishment of new animal models through germline transmission.     

Identification and function of coactivator of estrogen receptor: ERIAP

With one million new cases in the world each year, breast cancer is the most common malig- nancy in women and comprises 18% of all female cancers. The incidence and mortality of breast cancer in China have been significantly increased in the past years. It has been known that several risk factors are associated with breast cancer[1], including inherited mutation in the BRCA1 and BRCA2 genes, increasing age, early onset of menstruation, late menopause, never having had chil- dren or havin…     

Risks of maternal prepregnancy overweight/obesity,excessive gestational weight gain,and bottle-feeding in infancy rapid weight gain: evidence from a cohort study in China

Rapid weight gain(RWG) in infants is associated with numerous health problems, and its risk factors are still unclear. We assessed 98,097 maternal-infant pairs from a population-based cohort study and followed up with them until the infants were6 months old. We assessed the associations between maternal prepregnancy weight status; gestational weight gain; feeding pattern; and infants' RWG at 0–1, 0–3, 1–3, and 3–6 months using multivariate unconditional logistic regression models, with controlled confounders. We found that maternal prepregnancy weight status, gestational weight gain, and feeding pattern at the1 st, 3 rd, and 6 th months had significant impacts on the infants' RWG at each time period(P0.05). Infants with overweight/obese mothers had a higher risk of RWG after birth, whereas those of mothers who experienced excessive gestational weight gain had higher risks of RWG from birth than the other groups(P0.01). Infants who were formula-fed had a higher risk of RWG than breastfed infants at the same time point(P0.01). In conclusion, maternal prepregnancy obesity, excessive gestational weight gain, and formula-feeding were risk factors for infants' RWG during the first 6 months of life.     

60Co事故受照人员远期细胞遗传学效应观察

对三例钴源事故受照人员照后6(7)年和11(12)年两次细胞遗传学随访结果表明,两次随访受照者染色体畸变率分别为4.29%和3.63%,均显著高于对照组(P<0.01),但两次随访间未见显著差异(P>0.05),而且第一次随访染色体畸变是以双+环和无着丝粒断片为主,第二次随访是以易位、缺失和倒位为主;两次随访受照者微核率分别为4.17‰和1.17‰,第二次随访微核率明显下降(P<0.01)。提示随着照后时间推移, 非稳定性染色体畸变逐渐丢失,稳定性染色体畸变仍保持在较高水平。 Abstract：　The analyses of chromosome aberrations and micronuclei in peripheral blood lymphocyte were performed in 3 cases exposed to 60Co radiation accident in 6(7) years and 11(12) years after irradiation. The results show that the frequencies of chromosome aberrations in exposed cases were 4.29% in 6(7) years and 3.63% in 11(12) years after irradiation, respectively, and the difference was not significant in the two times follow-up study. Most of the chromosome aberrations were acentric and dicentric chromosomes in first time follow-up study, and translocation, deletion and inversion chromosomes in second time follow-up one. The frequencies of micronuclei in exposed group were 4.17‰ and 1.17‰ in the two times follow-up study, respectively, and the rates of micronuclei in second time follow-up study were much lower than that in first one. The results indicated that the unstable type aberrations were gradually lost as time goes on ,and the level of stable type aberration was of high degree.     

The common MTHFR C677T and A1298C variants are not associated with the risk of non-syndromic cleft lip/palate in northern Venezuela

Non-syndromic cleft lip with or without cleft palate （nsCL/P） is among the most common major birth defects, with complex inheritance involving multiple genes and environmental factors. Numerous studies of MTHFR, encoding methylenetetrahydrofolate reductase, which catalyzes the rate-limiting step of folic acid biosynthesis, have shown inconsistent association of two common hypomorphic allelic variants, C677T and A1298C, in nsCL/P patients and, in some cases, their mothers. We have studied the MTHFR C677T and A1298C polymorphisms in nsCL/P patients, their mothers, and population-matched controls from northern Venezuela. We found no evidence for contribution of the MTHFR C677T and A1298C variants to the risk of nsCL/P in northern Venezuela. Overall, our findings fail to support a causal role of either the MTHFR C677T or A 1298C variants in the pathogenesis of nsCL/P in northern Venezuela.     

Current medical treatment of estrogen receptor-positive breast cancer

Approximately 80% of breast cancers(BC) are estrogen receptor(ER)-positive and thus endocrine therapy(ET) should be considered complementary to surgery in the majority of patients. The advantages of oophorectomy, adrenalectomy and hypophysectomy in women with advanced BC have been demonstrated many years ago, and currently ET consist of(1) ovarian function suppression(OFS), usually obtained using gonadotropinreleasing hormone agonists(Gn RHa);(2) selective estrogen receptor modulators or down-regulators(SERMs or SERDs); and(3) aromatase inhibitors(AIs), or a combination of two or more drugs. For patients aged less than 50 years and ER+ BC, there is no conclusive evidence that the combination of OFS and SERMs(i.e., tamoxifen) or chemotherapy is superior to OFS alone. Tamoxifen users exhibit a reduced risk of BC, both invasive and in situ, especially during the first 5 years of therapy, and extending the treatment to 10 years further reduced the risk of recurrences. SERDs(i.e., fulvestrant) are especially useful in the neoadjuvant treatment of advanced BC, alone or in combination with either cytotoxic agents or AIs. There are two types of AIs: type Ⅰ are permanent steroidal inhibitors of aromatase, while type Ⅱ are reversible nonsteroidal inhibitors. Several studies demonstrated the superiority of the third-generation AIs(i.e., anastrozole and letrozole) compared with tamoxifen, and adjuvant therapy with AIs reduces the recurrence risk especially in patients with advanced BC. Unfortunately, some cancers are or became ET-resistant, and thus other drugs have been suggested in combination with SERMs or AIs, including cyclin-dependent kinase 4/6 inhibitors(palbociclib) and mammalian target of rapamycin(m TOR) inhibitors, such as everolimus. Further studies are required to confirm their real usefulness.     

Development of cancer-initiating cells and immortalized cells with genomic instability

Cancers that develop after middle age usually exhibit genomic instability and multiple mutations. This is in direct contrast to pediatric tumors that usually develop as a result of specific chromosomal translocations andepigenetic aberrations. The development of genomic instability is associated with mutations that contribute to cellular immortalization and transformation. Cancer occurs when cancer-initiating cells(CICs), also called cancer stem cells, develop as a result of these mutations. In this paper, we explore how CICs develop as a result of genomic instability, including looking at which cancer suppression mechanisms are abrogated. A recent in vitro study revealed the existence of a CIC induction pathway in differentiating stem cells. Under aberrant differentiation conditions, cells become senescent and develop genomic instabilities that lead to the development of CICs. The resulting CICs contain a mutation in the alternative reading frame of CDKN2A(ARF)/p53 module, i.e., in either ARF or p53. We summarize recently established knowledge of CIC development and cellular immortality, explore the role of the ARF/p53 module in protecting cells from transformation, and describe a risk factor for genomic destabilization that increases during the process of normal cell growth and differentiation and is associated with the downregulation of histone H2 AX to levels representative of growth arrest in normal cells.     

六种藓类植物茎的比较解剖学研究

通过对6种藓类植物,即褶叶青藓(Brachythecium salebrosum(Web.et Mohr.)B.S.G.)、湿地匐灯藓(Plagiomnium acutum(Lindb.)Kop.)、侧枝匐灯藓(Plagiomnium maximoviczii(Lindb.)Kop.)、大凤尾藓(Fissidensnobilis Griff.)、大羽藓(Thuidium cymbifolium(Doz.et Molk.)B.S.G.)和大灰藓(Hypnum plumaeforme Wils.)嫩茎和老茎的石蜡切片和显微观察发现,同一藓类植株的嫩茎和老茎,茎结构稳定,不同种藓类植物茎横切面具有不同特征.植物体茎横切面形状、表层细胞的层数、细胞大小和细胞壁厚薄、皮层细胞大小和形状、中轴的有无以及比例等特征可以作为藓类植物的分科分类依据之一.     

Cause of Senescence of Nine Sorts of Flowers

The levels of endogenous phytohormones and respiratory rate in nine sorts of flowers such as Cymbidium faberi Rolfe, Nopalxochia ackermannii Kunth and others were investigated both at full bloom and senescence and meanwhile the effect of exogenous phytohormones on prolonging the blossoms and promoting ethylene production were tested. There is a high content of endogenous ethylene in all the long-lived flowere, about 3–16 folds higer than the short-lived ones. There is a high level of ABA at full blooming flowers of short-lived flowers, in which there is no or only some cytokinins in it, but the ratio of CTK (6BA+zeatin)/ABA is smaller(l.7). The endogenous ABA reached a much higher level at senescence in all nine sorts of flowers, so it is reasonable to consider that it is ABA which plays an important role of regulation in controlling flower's senescence. There is a much higher level of GA3 and zeatin in the long-lived flowers which is not demonstrated in the shortlived ones. The respiratory rate is one of the factors controtling the longevity of flowers, but it does not play a decided role. Application of 6BA and zeatin prolongs distinctly orchid’s longevity, however exogenous IAA through the promotive action on ethylene production, evidently extends the longevity of the flowers of the Nopalxochia ackermannii Kunth.     

真菌类遗传学分析的知识结构教学

本文以认知结构理论为指导,讨论了真菌类遗传分析与高等动植物遗传分析的内在联系,认为利用这种内在联系进行教学可收到好的效果并说明了作者的具体教学过程。 Abstract:In the paper, the relationship between genetic analysis of Fungi and genetic analysis of high animal and plant was discussed.A good results were obtained when we adopted this method in the teaching.     

医疗机构合理用药评价模型的构建研究

目的 针对医疗机构的合理用药水平进行评价研究。方法 根据医疗机构合理用药的具体要求,构建医疗机构合理用药评价指标体系,采用基于模糊群决策的方法和多指标评价分析法构建医疗机构合理用药评价模型。结果 构建了基于模糊群决策的医疗机构合理用药评价模型,并通过实例分析证明了评价模型的可行性。结论 建立的基于模糊群决策的医疗机构合理用药评价模型能够对医疗机构的合理用药水平进行科学评价,为提高医疗机构合理用药水平奠定基础。     

棉铃虫钙粘蛋白N端多肽多克隆抗体制备及对Bt抗性的初步检测

用重组表达的棉铃虫Helicoverpa armigera(Hübner)中肠钙粘蛋白N端多肽片段制备兔多克隆抗体,并利用其对Bt抗性进行鉴定。通过RT-PCR方法对棉铃虫中肠钙粘蛋白N端多肽的基因片段Cad285进行PCR扩增,将其克隆到pET-30a原核表达载体中,在大肠杆菌BL21(DE3)中经IPTG诱导表达,得到35ku的重组融和蛋白,融合表达的包涵体经过变性、Ni-NTA柱亲和纯化、复性等方法处理包涵体,获得可溶性纯化蛋白,用纯化后蛋白免疫新西兰兔制备多克隆抗体,ELISA检测其效价高于1∶16000;利用最终获得的多克隆抗体对室内纯合Bt抗/感品系的棉铃虫中肠钙粘蛋白进行Western blot分析,结果显示敏感和抗性品系之间有明显差异,表明其能够应用对Bt抗性进行初步检测。     

龙胆科药用植物化学成分的研究现状

龙胆科植物在我国的分布范围很广,且多数为药用植物,其多数种属的药用植物,至今其化学成分尚未被系统研究。综述了目前龙胆科药用植物的化学成分的研究现状及一般提取方法,对近年来发现的环烯醚萜及裂环烯醚萜类化合物进行了总结,为本科药用植物的更深入研究提供了参考。     

青蒿素生物合成机理研究现状

本文总结了目前有关青蒿素生物合成机理方面的研究,主要包括青蒿素生物合成中生理因子的影响,青蒿素生物合成中间体及前体,青蒿素生物合成细胞定位等。指出了存在的一些问题及今后的研究发展前景。