青岛地区D6S477等五个短串联重复序列基因座的遗传多态性研究

目的 了解D6S477等5个基因座在青岛地区汉族群体中基因型分布及等位基因频率等遗传多态性数据，初步探讨其应用价值。方法 收集200名青岛地区汉族无关个体的静脉血，ACD抗凝，采用Chelex法提取DNA，应用聚合酶链反应技术，扩增D6S477、D9S1118、D18S865、D19S400和D20S161基因座的短串联重复序列，聚丙烯酰胺凝胶垂直电泳，银染显色分型。结果 获得了青岛地区汉族群体上述5个基因座的等位基因频率，基因型分布均符合Hardy-Weinberg平衡（P〉0．05）。结论 这5个基因座在青岛地区汉族群体中有较高的非父排除率和个人识别机率，在遗传学研究中有较高的应用价值。     

怀化地区侗族高血压高发人群醛固酮合成酶基因多态性(-344C/T)研究

目的探讨醛固酮合成酶(CYB11B2)基因多态性与怀化侗族高血压高发人群原发性高血压(EH)及血脂水平的关系.方法采用聚合酶链反应结合限制性内切酶片段长度多态分析方法(PCR-RFLP)检测89例怀化侗族高血压病人和85例正常人的CYB11B2-344C/T等位基因频率和基因型频率.结果高血压组CYB11B2-344C/T基因型频率(CC 10.1%、CT41.6%、TT 48.3%)和等位基因频率(C 30.9%、T 69.1%)与正常对照组基因型频率(CC 10.3%、CT 27.6%、TT 62.1%)和等位基因频率(C 24.1%、T 75.9%)比较无显著性差异.CC基因型患者与CT TT基因型患者比较,收缩压和舒张压无显著性差异.结论怀化侗族人群EH可能与CYB11B2基因多态性无关.     

汉族与蒙古族大学生父母养育方式比较研究

国内外学者对父母养育方式与子女人格发展以及心理健康的关系进行了大量研究 ,显示 :父母的养育方式对子女的成长至关重要 ,不当的教养方式易使子女罹患神经症或形成不良的性格[1- 4] 。本研究采用已修订的父母养育方式问卷 (EMBU) ,对汉族和蒙古族大学生进行测查 ,以期对汉族和蒙古族大学生的父母养育方式的异同及特点进行探讨 ,并进一步确认影响父母养育方式的某些相关因素。1　对象与方法1.1　对象少数民族地区与内地两所大学 2 0 0 1年新生 32 8人。其中汉族学生 178人 ,蒙古族学生 15 0人。获得有效问卷 2 95份 ,其中汉族学生 16 1人…     

Integrated sibling-parent group intervention to improve sibling knowledge and adjustment to chronic illness and disability

OBJECTIVE: To evaluate an integrated group intervention for siblings and parents designed to increase sibling understanding of and adjustment to chronic illness and developmental disability (CI/DD). METHODS: Fifty-four well siblings (ages 8-13 years) and their parents were recruited through hospital-based and community agencies serving children with CI/DD. Measures of sibling knowledge, sibling adjustment to the disorder, sibling connectedness, and sibling global behavioral functioning were collected before and after the intervention. A subsample of 20 families completed a 3-month follow-up to assess maintenance of results. RESULTS: Sibling knowledge of the child's disorder and sibling connectedness increased, while sibling reports of negative adjustment to the disorder and parent reports of sibling global behavioral functioning decreased significantly from pre- to posttreatment for both boys and girls, regardless of the type of diagnostic condition. Improvements in sibling knowledge, connectedness, and behavioral problems maintained at 3-month follow-up. Parent satisfaction with the program was high. CONCLUSIONS: Results support the future conduct of more controlled evaluation of the integrated sibling and parent group intervention model to improve sibling knowledge of and adjustment to CI/DD.     

ABO血型基因分型及应用

目的 :研究ABO血型基因分型的意义。方法 :采用聚合酶链反应 序列特异性引物 (PCR SSP)基因定型方法对ABO血型基因定型并观察其基因多态性分布特征和疑难血型检定。结果 :对已知ABO基因的DNA标本进行基因定型 ,证实文中的ABO基因定型方法可靠 ;对 10 4例健康、无血源关系的汉族个体ABO血型基因定型 ,结果与血清学所定表型完全符合 ;并用ABO基因分型技术解决临床输血前血型鉴定、产前胎儿血型鉴定、亲权试验及血清学亚型的正确性验证。结论 :ABO血型基因分型技术可以正确判定ABO血型疑难样本     

DNA sequence analysis of the apocytochrome b gene of Podospora anserina: a new family of intronic open reading frame

Summary The 5,969 by (base pair) DNA sequence of the apocytochrome b mitochondrial (mt) gene of race A Podospora anserina was located in a 8.5 Kbp region. This gene contained a 2,499 by subgroup IB and a 1,306 by subgroup ID intron as well as a 990 bp subgroup IB intron which is present in race A but not race s. The large subgroup IB intron and the race A specific IB intron both contained potential alternate splice sites which brought their open reading frames into phase with their upstream exon sequences. All three introns were compared with regard to their secondary structures and open reading frames to the other 30 group I introns in Podospora anserina, as well as to other fungal introns. We detected a new family of intronic ORFs comprising seven P. anserina introns, several N. crassa introns, as well as the T4td bacteriophage intron. Sequence similarities to intron-encoded endonucleases were noteworthy. The DNA sequences reported here and in the accompanying paper complete the analysis of race s and race A mitochondrial DNA.     

Neuronal responses to horizontal neck deflection in the group X region of the cat's medullary brainstem

Summary Neuronal responses to natural stimulation of neck proprioceptors were studied in the region of the small cell group x in the dorsolateral medullary brainstem of slightly anesthetized and paralyzed cats. Stimulation consisted of horizontal trunk rotations about C₁ with the head fixed in space. Out of 74 neurons recorded, 92% showed an increase in discharge rate with ipsilateral neck stretch and a decrease with contralateral stretch (Type N I responses); 8% showed the reverse response pattern (Type N II responses). In the primary head-to-trunk position, almost all neurons had tonic activity that probably stemmed from prestretched neck proprioceptors. Responses to sinusoidal stimulation and position trapezoids showed a static (position-sensitive) as well as a dynamic (essentially velocitysensitive) component. The relative weight of the two components varied considerably among the neurons. It was not possible to distinguish discrete neuronal populations on the basis of the dynamic characteristics. There was no evidence of a convergent input from other receptor systems, such as the horizontal canal system. Several neurons responded to muscle tapping and showed an increase of the velocity component following systemic injection of succinylcholine. We take this as evidence that they may receive input from muscle spindle receptors.Supported by the Deutsche Forschungsgemeinschaft, SFB 70/U4     

A new haplogroup pattern displayed in Fujian Han in China

Human Y-chromosomal binary polymorphisms have been considered to preserve the paternal genetic legacy and provide evidence on human evolution and the genetic relationships among and demographic history of different populations. To reveal the genetic origin and immigration of the Fujian Han, 13 binary markers on the Y chromosome were used to screen Fujian Han by allele-specific polymerase chain reaction. The results indicated that the M₉G marker was highly prevalent (96.20%), suggesting a significant genetic drift. In addition, M₁₂₂C frequency was only 22.78%, and M₄₅A and M₁₀₃T were default. The distinctive haplogroup frequencies (H₁, H₅, and H_6/7/8) imply that the haplogroup pattern is a relatively ancestral and interim type. Received: October 13, 2001 / Accepted: December 3, 2001     

我国福建汉族人HSP70基因多态性分析

目的了解福建省汉族人HSP70基因多态性分布，进而为探讨HSP70基因多态性与疾病的相关性提供遗传背景资料。方法应用聚合酶链反应技术、限制性内切酶分析检测了127名福建汉族正常人的HSP70基因3个多态性位点，并比较了部分不同地区和人群之间的基因型与等位基因频率。结果福建汉族人HSP70-1基因型（GG，GC和CC）分布频率分别是55．1％、40．2％和4．7％；HSP70-2基因型（从，AG和GG）分布频率分别是44．1％、铝．8％和6．9％；HSP70-hom基因型（Tr，TC和CC）分布频率分别是59.8％、37．0％和3．2％；HSP70-1等位基因频率G和C分别是75．2％和24．8％；HSP70-2等位基因频率A和G分别是68．5％和31．5％；HSP70-hom等位基因频率T和C分别是78．3％和21．7％。福建汉族人HSP70-1的基因型分布和等位基因频率同日本、墨西哥人群比较差异无统计学意义，与美国和西班牙人比较，差异有统计学意义（P〈0．01）。福建汉族人HSP70-1的GG纯合型（55．1％）显著高于美国（42．6％）和西班牙（33．0％）人群；福建汉族人HSP70-2的基因型分布和等位基因频率与日本人比较差异无统计学意义，与墨西哥、美国和西班牙人群比较，差异有统计学意义（P〈0．05），福建汉族人HSP70-2的AA纯合型（44．1％）高于墨西哥（23．O％）、美国（38．8％）和西班牙（20．O％）人群；福建汉族人群的HSP70-hom基因型和等位基因频率分布同日本、墨西哥、美国和西班牙人群的基本一致，差异无统计学意义，福建汉族人群的HSP70基因型和等位基因频率分布同中国台湾汉族人基本一致，差异无统计学意义，与武汉地区汉族人某些位点存在差异。结论福建汉族人HSP70基因多态性分布不同于某些地区的人群，具有种族和地区差异。     

Native and sialic acid masked Lewisa antigen reactivity in medullary thyroid carcinoma

Forty-six medullary thyroid carcinomas (MTC) were subjected to a qualitative and quantitative characterization of native and sialic acid masked Lewis^a (Le^a) antigens. Immunohistochemical investigations included monoclonal antibodies (MABs) directed against alpha(2,3)-sialyl-Le^a, i.e. CA19-9 (MAB 19-9), native Le^a (MAB anti Le^a) and alpha(2,3) sialyl type 1 structure, i.e. CA 50 (MAB C50). To detect sialic acid masked Le^a reactivity, MAB anti-Le^a was also applied to native and enzymatically desialylated tissue sections with and without masking of sialic acid residues by sialic acid and sequence specific lectins. Only 7 MTC (15%) displayed a weak expression of CA19-9, while 16 (33%) showed moderate positive staining for native Le^a. Twenty-seven tumours exhibited a strong staining by the N'ase MAB anti Le^a staining sequence. The latter could most effectively be inhibited by the simultaneous masking of alpha(2,3)-and alpha-(2,6)-linked sialic acid residues due to the comptetitive binding of sialic acid and sequence specific lectins: Maackia amurensis agglutinin (specific alpha(2,3)-linked sialic acid) and Sambucus nigra agglutinin (specific alpha(2,6)-linked sialic acid). Thus, in MTC the major portion of sialic acid masked Le^a antigen reactivity is different from that detected by the MAB 19-9. The antigen reactivity is probably due to Le^a structures containing both alpha(2,3) and alpha(2,6)-linked sialic acid residues. A highly significant correlation between the expression of CA50 and that detected by the N'ase MAB anti-Le^a staining sequence indicates that the alpha(2,3)-sialyl type 1 chain represents a common intermediate structure within the pathway of the biosynthesis of sialylated Le^a antigens, excluding the formation of CA19-9 via the formation of the disialyl type 1 structure. This is subsequently fucosylated to the corresponding sialic acid masked Le^a. Preliminary clinicopathological studies indicate that the sialic acid masked Le^a antigens detected by the N'ase MAB anti-Le^a staining sequence are related to biologically aggressive MTC.