贵州苗族、水族10对遗传性状的基因频率

本文调查了贵州苗族448人、水族465人10对群体遗传学性状。结果显示: 贵州苗族和水族群体睫毛、拇指类型、中指毛3对遗传性状基因频率间具有显著性差异(P＜0.05); 叠舌、卷舌、前额发际、耵聍、鼻尖、环食指长、小指弯曲7 对遗传性状基因频率间无显著性差异(P > 0. 05); 贵州苗族、水族群体10对遗传性状间相关性不大。     

云南傣族、景颇族、阿昌族PTC尝味能力的测定

用阈值法对云南德宏州的傣族、景颇族、阿昌族2327人进行了苯硫脲（PTC）味阈的测定,结果表明：不同民族尝味阈值差异高度显著（P<0.01）,不同民族的味盲率有高度显著性差异,三个民族总计,男女尝味阈值差异高度显著,味盲率差异高度显著;傣族、景颇族和阿昌族中,男女尝味阈值均有高度显著差异;傣族、景颇族的男女性别的味盲率间有高度显者性差异,阿昌族性别味盲率间无显著性差异（P<0.05）;三个民族总计,少年与成年组尝味阈值间有高度显著性差异,而味盲率间无显著性差异。傣、景二个民族不同年龄的尝味阈值间有高度显著性差异,阿昌族年龄的尝味阈值间无显著性差异;傣、景民族年龄间的味盲率无显著性差异,而阿昌族味盲率有显著性差异（0.05>P>0.01）。     

贵州回族、苗族和彝族29个Y-STR基因座遗传多态性及与其他7个群体遗传结构分析

对贵州回族、苗族、彝族开展29个Y-STR基因座遗传多态性及群体遗传结构分析,并与其他7个群体进行遗传关系比较研究,探讨其在法医学和群体遗传学中的实际应用价值.应用DNATyperTMY29试剂盒对309名贵州苗族、331名贵州彝族和291名贵州回族无关个体进行检测,统计29个Y-STR基因座的等位基因频率及基因多样性...     

贵州黔西县少数民族ABO血型分布及基因频率调查

对贵州黔西县1260例6个少数民族人群红细胞ABO表现型进行了检测;结果如下:贵州黔西县布依族、满族、苗族、白族这四个民族的ABO血型基因频率很相近,彝族和仡佬族与这4个民族的差别较大,布依族,苗族,满族,白族ABO血型分布为O>B>A>AB,彝族为O>A>B>AB,仡佬族为A>O>B>AB;经Hardy Weinberg吻合度检测可以证明贵州黔西县的ABO血型表现型分布状况及基因频率相对稳定,其分布符合hardy Weinberg平衡,获得了该地ABO血型系统群体遗传学数据,为群体遗传学的研究提供了一定的资料。     

云南省彝、白、傣、哈尼族人红细胞乙二醛酶Ⅰ的分型调查及其频率研究

采用淀粉/琼脂糖电泳技术对云南省彝族、白族、傣族、哈尼族四个少数民族人群红细胞乙二醛酶1(GLO Ⅰ)进行分型调查,结果:GLO~1彝族0.1163、白族0.1468、傣族0.1205、哈尼族0.2070。比较上述四个少数民族之间及其与我国汉族和其它少数民族之间,以及与国外不同人种、不同地区人群之间比较,表明GLO Ⅰ基因在中华民族大群体中具有一定的分布特征;但在我国各民族之间仍然存在着程度不同的差异,而这种民族间差异却明显小于种族间差异。通过对生活在不同地域的同一民族间比较,表明GLO Ⅰ基因频率的分布无显著性的地域差异。     

云南省彝、白、傣、哈尼族人红细胞乙二醛酶I的分型调查及其频率研究

采用淀粉/琼脂糖电泳技术对云南省彝族、白族、傣族、哈尼族四个少数民族人群红细胞乙二醛酶I(GLO I)进行分型调查,结果：GLO¹ 彝族0.1163、白族0.1468、傣族0.1205、哈尼族0.2070。比较上述四个少数民族之间及其与我国汉族和其他少数民族之间,以及与国外不同人种、不同地区人群之间比较,表明GLO I基因在中华民族大群体中具有一定的分布特征;但在我国各民族之间仍然存在着程度不同的差异,而这种民族间差异却明显小于种族间差异。通过对生活在不同地域的同一民族间比较,表明GLO I基因频率的分布无显著性的地域差异。     

西藏小型猪与人血液流变学指标的比较分析

目的探讨西藏小型猪与人血液流变学指标间的变化规律。方法采集成年西藏小型猪和人的血液样品,分别检测其WBV（高、中、低切变率）、PV、HCT、ESR及Fi等5项血液流变学指标。结果（1）雄性西藏小型猪的150s^-1、30s^-1、5s^-1、1s^-1WBV值和Fi含量均显著低于雌性（P〈0.05,P〈0.01,P〈0.05,P〈0.01,P〈0.01）;（2）在人的血液流变学指标中男性的WBV值（1s^-1）和HCT值显著高于女性（P〈0.05,P〈0.01）;（3）西藏小型猪的HCT值和Fi含量与人相比存在显著差异（P〈0.01）,其余指标均无显著性差异（P〉0.05）。结论西藏小型猪除HCT和Fi两指标与人有差异外,其余指标均与人基本接近。     

C57-ras致癌性转基因小鼠模型的脏器及血液学参数

目的测定自主建立的致癌性转基因动物模型C57-ras小鼠的血液生理生化值和主要脏器重量,计算脏器系数并作统计学分析。方法选取同窝C57-ras转基因阳性和阴性小鼠,雌雄各半,采血,测量血液生理指标和血清生化指标,并称主要脏器重量。结果 C57-ras转基因阳性雌鼠和阴性雌鼠间比较,NEUT、NEUT%存在显著性差异（P〈0.05）,PCT存在极显著性差异（P〈0.01）。C57-ras转基因阳性雄鼠和阴性雄鼠间比较,RBC、HCT、PLT、PCT存在显著性差异（P〈0.05）,MON%存在极显著性差异（P〈0.01）。血清生化指标中,ALT和TG存在显著性差异（P〈0.05）。主要脏器重量和脏器系数比较结果显示,除C57-ras转基因阳性雌鼠和阴性雌鼠在肺重量存在极显著性差异（P〈0.01）外,其余均无显著性差异（P〉0.05）。结论新建C57-ras致癌性转基因小鼠模型和正常C57BL/6小鼠的主要生物学特性基本一致,利于该模型在致癌性安全性评价等领域的实际应用。     

三个STR位点在哈萨克族中的遗传多态性

运用复合PCR扩增,6％变性聚丙烯酰胺凝胶电泳结合银染技术对我国新疆102位无关的哈萨克族个体进行D16S539,D7S820,D13S317的STR位点的调查,为建立新疆哈萨克族群体数据库提供资料。经统计学检验,3个位点的基因型频率分布符合Hardy-Weinberg平衡定律,结果显示3个位点的期望杂合度为：0.9439、0.9356、0.9304,累积PIC＝0.9905,DP＝0.9998,PE=9572。紫外,比较新疆哈萨克族与其他4个人群的等位片段频率,发现除与北京汉族在D7S820位点上无统计学意义外（P＞0.05）,其他均可见显著性差异（P＜0.05）。同时,在8个家系42人的调查中无一突变发现且均按孟德尔遗传规律传递。3个STR位点的联合分析在法医学应用及群体遗传学中显示了较高的价值。     

贵州从江侗族威宁彝族、荔波瑶族谷胱甘肽S-转移酶M l、Tl 和Pl 的基因多态性研究

目的：研究贵州从江侗族、威宁彝族、荔波瑶族的GSTs基因多态性。方法：在隔离自然人群中,采用多重等住基因特异聚合酶链反应方法分析GSTM1和GSTT1基因多态性,同时采用PCR-RFLP的方法和TaqMan-MGB探针基因分型方法分析GSTP1（A1578G）基因多态性。结果：贵州从江侗族、成宁彝族、荔波瑶族的GSTM1和GSTT1纯合缺失基因型频率分别为59．6％～71．2％、39．4％～72.5％。其GSTP1（A1578G）基因型频率分别为：野生型（AA）为63.3％～75％、杂合子（AG）为23.2％～35．8％、纯合突变型（GG）为0～1.9％。等位基因频率：A为81．2％～86．6％,G为13．4％～18.8％。结论：贵州从江侗族、威宁彝族、荔波瑶族的GSTM1纯合缺失基因型频率在民族间差异无统计学意义,GSTP1（A1578G）基因型频率和等住基因频率在民族间差异无统计学意义,且其等位基因频率均符合Hardy-Weinberg平衡,但其GSTT1纯合缺失基因型频率在民族间差异有统计学意义（P〈0．05）。     

Role for dopamine in malonate-induced damage in vivo in striatum and in vitro in mesencephalic cultures

Defects in mitochondrial energy metabolism have been implicated in the pathology of several neurodegenerative disorders. In addition, the reactive metabolites generated from the metabolism and oxidation of the neurotransmitter dopamine (DA) are thought to contribute to the damage to neurons of the basal ganglia. We have previously demonstrated that infusions of the metabolic inhibitor malonate into the striata of mice or rats produce degeneration of DA nerve terminals. In the present studies, we demonstrate that an intrastriatal infusion of malonate induces a substantial increase in DA efflux in awake, behaving mice as measured by in vivo microdialysis. Furthermore, pretreatment of mice with tetrabenazine (TBZ) or the TBZ analogue Ro 4-1284 (Ro-4), compounds that reversibly inhibit the vesicular storage of DA, attenuates the malonate-induced DA efflux as well as the damage to DA nerve terminals. Consistent with these findings, the damage to both DA and GABA neurons in mesencephalic cultures by malonate exposure was attenuated by pretreatment with TBZ or Ro-4. Treatment with these compounds did not affect the formation of free radicals or the inhibition of oxidative phosphorylation resulting from malonate exposure alone. Our data suggest that DA plays an important role in the neurotoxicity produced by malonate. These findings provide direct evidence that inhibition of succinate dehydrogenase causes an increase in extracellular DA levels and indicate that bioenergetic defects may contribute to the pathogenesis of chronic neurodegenerative diseases through a mechanism involving DA.     

Scurvy in capybaras bred in captivity in Argentine

In order to determine if the absence of vitamin C in the diet of capybaras (Hydrochoerus hydrochaeris) causes scurvy, a group of seven young individuals were fed food pellets without ascorbic acid, while another group of eight individuals received the same food with 1 g of ascorbic acid per animal per day. Animals in the first group developed signs of scurvy-like gingivitis, breaking of the incisors and death of one animal. Clinical signs appeared between 25 and 104 days from the beginning of the trial in all individuals. Growth rates of individuals deprived of vitamin C was considerably less than those observed in the control group. Deficiency of ascorbic acid had a severe effect on reproduction of another population of captive capybaras. We found that the decrease in ascorbic acid content in the diet affected pregnancy, especially during the first stages. The results obtained suggest that it is necessary to supply a suitable quantity of vitamin C in the diet of this species in captivity.     

Changes in lactate dehydrogenase activity in chicken tissues in hyperthyreosis in ontogenesis

The lactate dehydrogenase activity in reactions of lactate oxidation and synthesis was studied in subfractions of the chicken brain, heart and liver at the embryonal, early postembryonal and adult stages of development after thyroxine administration. It has been shown that during embryogenesis thyroxine predominantly enhanced the rate of lactate oxidation in the mitochondrial tissues. A marked increase in the lactate synthesis was found in cytoplasm of the adult chicken tissues. Specificity of enzyme activity alterations was detected in the chicken brain during ontogenesis after thyroxine administration.     

SSTR5 ablation in islet results in alterations in glucose homeostasis in mice

Somatostatin (SST) peptide is a potent inhibitor of insulin secretion and its effect is mediated via somatostatin receptor 5 (SSTR5) in the endocrine pancreas. To investigate the consequences of gene ablation of SSTR5 in the mouse pancreas, we have generated a mouse model in which the SSTR5 gene was specifically knocked down in the pancreatic beta cells (betaSSTR5Kd) using the Cre-lox system. Immunohistochemistry analysis showed that SSTR5 gene expression was absent in beta cells at three months of age. At the time of gene ablation, betaSSTR5Kd mice demonstrated glucose intolerance with lack of insulin response and significantly reduced serum insulin levels. Insulin tolerance test demonstrated a significant increase of insulin clearance in vivo at the same age. In vitro studies demonstrated an absence of response to SST-28 stimulation in the betaSSTR5Kd mouse islet, which was associated with a significantly reduced SST expression level in betaSSTR5Kd mice pancreata. In addition, betaSSTR5Kd mice had significantly reduced serum glucose levels and increased serum insulin levels at 12 months of age. Glucose tolerance test at an older age also indicated a persistently higher insulin level in betaSSTR5Kd mice. Further studies of betaSSTR5Kd mice had revealed elevated serum C-peptide levels at both 3 and 12 months of age, suggesting that these mice are capable of producing and releasing insulin to the periphery. These results support the hypothesis that SSTR5 plays a pivotal role in the regulation of insulin secretion in the mouse pancreas.