Penta D/Penta E基因座在云南回族群体中基因多态性研究

目的获得2个短串联重复（short tandem repeat，STR）基因座（Penta D、Penta E）在云南回族人群中的基因型及等位片段频率分布，获得相应位点的群体遗传学数据。方法204份EDTA抗凝血样采自云南昆明地区无血缘关系的回族个体，利用荧光标记复合扩增及毛细管电泳自动荧光检测的方法，对该群体样本检测，获得2个STR基因座等位基因的分布频率等群体遗传学数据，并检验它们基因型频率分布是否符合Hardy—Weinberg平衡，计算法医学常用各种概率。结果全部样本的每个STR基因座都获得了清晰的基因型分型结果。2个STR基因座均符合Hardy—Weinberg平衡。结论获得2个STR基因底的基因型分型结果，适用于法医学亲权鉴定和个人识别，为人类群体遗传学研究提供了2个STR基因座的云南回族群体数据。     

短干扰RNA抑制人宫颈癌HeLa细胞Ku80基因表达

目的 针对内源性Ku80基因序列体外构建短干扰RNA（siRNA）线性DNA转录载体，观察其在细胞内产生的siRNA对该基因表达的影响。方法 构建的线性DNA转录载体经脂质体导入宫颈癌HeLa细胞内，转录产生21bp的短双链siRNA，并用免疫印迹法分析Ku80基因在蛋白水平表达的情况。结果 体外成功构建出siRNA线性DNA转录载体LS1／LAS1和LS2／LAS2；载体分别导入HeLa细胞内生成相应siRNA；与空白对照组比较，实验组均能特异性抑制Ku80基因的表达；其抑制效果和时间点与所选基因靶位相关。结论 由线性DNA载体转录生成的siRNA在细胞内特异性抑制内源性基因表达，为Ku80用于肿瘤靶向基因治疗提供了一个新的实验依据。     

常染色体STR鉴定同胞的应用探讨

 【目的】探讨常染色体STR遗传标记鉴定两个体同胞关系的可行性。【方法】用PowerPlex^TM 16体系15个常染色体STR基因座检测50对全同胞、25对半同胞和50对无关个体，ITO法计算全同胞关系指数（PSI）、半同胞关系指数（HSI）和PSI：HSI值，比较3组两个体间等位基因匹配情况，并进行组间差异的x^2检验。【结果】全同胞的FSI均大于1；19对半同胞的HSI大于1；无关个体FSI均小于1；49对无关个体HSI小于1，1对为1．297。46对全同胞的FSI：HSI值大于1，22对半同胞的FSI：HSI值小于1。全同胞组两个体间1对等位基因全相同、半相同、全不同的基因座数平均值分别为6．06个、7．52个、1．42个；半同胞组分别为2．96个、8．48个、3．56个；无关个体组分别为1．24个、7．22个、6．54个。x^2检验3组两个体间1对等位基因全相同和全不同的基因座数差异有显著意义，半相同的基因座数差异无显著意义。【结论】PowerPlex^TM 16体系在全同胞一无关个体的鉴定中效率较高，在鉴定半同胞一无关个体或全同胞一半同胞时效率降低。全同胞一半同胞关系鉴定时，PSI：HSI值是一个较有效的指标：大于1倾向于为全同胞，小于1倾向于为半同胞。     

广西金秀瑶族9个DNA短串联基因座遗传多态性

目的:了解广西金秀瑶族群体9个STR基因座(D5S818、D7S820、D13S317、D16S539、D18S51、D19S433、D21S11、FGA、vWA)的遗传多态性.方法:枸橼酸钠抗凝的广西金秀瑶族无相关健康个体血样175例.先用Chelex-100方法提取DNA,然后用AmpFeSTR.IdentifilerTMkit荧光标记复合PCR扩增技术进行9个STR基因座复合扩增,用ABI3100型遗传分析仪对扩增产物进行电泳,并用Gene Scan Analysis3.7和Genetyper3.7软件对扩增结果进行分析.结果:广西金秀瑶族9个位点中共检测出100种等位基因,基因频率分布在0.002 9～0.394 3之间;302种基因型,频率分布在0.005 4～0.365 7之间.9个位点的基因型分布均符合Hardy-Weinberg平衡定律.9个STR基因座的杂合度分布在0.737 1～0.928 6之间,个体识别力(DP)分布在0.895 2～0.967 4之间,累积个体识别力TDP为＞0.999 999 999,非父排除率(EP)在0.653 8～0.878 3之间,累积非父排除率CEP为0.999 998 4,多态信息量PIC分布在0.715 3～0.864 5之间.结论:广西金秀瑶族9个STR基因座均属于高度多态性遗传标记,具有较高的应用价值.     

综合康复治疗单纯性肥胖儿童阴茎短小30例

目的探索单纯性肥胖儿童阴茎短小的治疗方法。方法单纯性儿童阴茎短小60例分为试验组和对照组各30例。试验组予综合方法减肥和用阴茎短小康复仪治疗,对照组给予行为、饮食、运动指导和阴茎短小康复仪治疗。结果试验组治疗后体质量均有下降,下降幅度(7.75±3.50)kg,体质量指数(BMI)由治疗前(31.10±3.88)下降至(27.82±3.49),两者有显著差异(t=12.68 P<0.01),对照组1个月后BMI(30.89±2.60)明显高于试验组(P<0.01);治疗后试验组阴茎长度由治疗前(1.81±0.76)cm增加至(3.45±1.20)cm,两者比较有显著性差异(t=16.35 P<0.01),其中16例治疗后阴茎长度已达到同龄阴茎的正常范围;对照组阴茎长度由治疗前(1.79±0.70)cm增加至(2.73±1.50)cm,其中3例治疗后阴茎长度已达到同年龄阴茎的正常范围,试验组治疗效果明显优于对照组(t=11.34 P<0.01)。结论在减肥治疗的基础上,配合阴茎短小治疗仪对阴茎进行局部康复治疗是治疗肥胖儿童阴茎短小的较好治疗方法。     

Living donor small bowel transplantation: Literature review 2003–2006

The experience with living donors for intestinal transplantation is limited. However, Intestinal Registry data suggest that the outcomes of the procedure are comparable with those obtained with intestinal transplant from deceased donors. In selected cases, this strategy may have a role in the treatment of patients with irreversible intestinal failure suffering life-threatening complications from total parenteral nutrition. The present review covers most of the published data on this topic between 2003 and 2006, with special reference to living donor intestinal transplantation of pediatric recipients.     

No Improvement of Adult Height in Non-growth Hormone (GH) Deficient Short Children with GH Treatment

It is still in doubt whether the standard-dose growth hormone (GH) used in Japan (0.5 IU/kg/week, 0.167 mg/kg/week) for growth hormone deficiency is effective for achieving significant adult height improvement in non-growth hormone deficient (non-GHD) short children. We compared the growth of GH-treated non-GHD short children with that of untreated short children to examine the effect of standard-dose GH treatment on non-GHD short children. GH treatment with recombinant human growth hormone (rhGH) was started before the age of 11 yr in 64 boys and 76 girls with non-GHD short stature registered at the Foundation for Growth Science who have now reached their adult height. In 119 untreated boys and 127 untreated girls whose height standard deviation score (SDS) was below –2 SD at the age of 6 yr, height growth was followed until 17 yr. Height SDS was significantly lower before GH treatment in the GH-treated group than at the age of 6 yr in the untreated group, in both sexes. Adult height and adult height SDS were significantly greater in the untreated group than in the GH-treated group, in both sexes, although the change in height SDS did not differ significantly. Height SDS was significantly lower before GH treatment in the GH-treated group than at the age of 6 yr in the untreated group, so 57 boys and 57 girls whose height SDS at the age of 6 yr in the untreated group closely matched the height SDS before GH treatment in the GH-treated group were chosen for comparison. Height SDS did not differ significantly between the GH-treated group before GH treatment and the untreated group at the age of 6 yr, nor were there differences between these subgroups in adult height, adult height SDS, or height SDS change, in either sex. The effect of GH treatment is reported to be dose-dependent and doses over 0.23 mg/kg/week are reported to be necessary to improve adult height in non-GHD short children. Currently, the GH dose is fixed at 0.175 mg/kg/week in Japan, and we expected to find, and indeed concluded, that ordinary GH treatment in Japanese, non-GHD short children does not improve adult height.     

儿童身材矮小的病因分析及遗传学诊断

目的 探讨身材矮小患儿的病因分布及遗传学诊断。方法 回顾性分析86例身材矮小患儿的病因分布及临床特征。结果 86例身材矮小患儿中,病因有6种,以特发性矮小症（ISS,41%）和生长激素缺乏症（GHD,29%）最常见,遗传性疾病（14%）次之。将遗传性疾病组与ISS组、GHD组比较显示,各组患儿就诊年龄、身高、出生身长、出生体重、父母身高及胰岛素样生长因子1（IGF-1）水平差异均无统计学意义（P > 0.05）,但遗传性疾病组身高距同年龄同性别个体身高第3百分位数的差值（ΔP3）和身高标准差评分（HtSDS）显著低于ISS组（P < 0.05）,但与GHD组相比差异无统计学意义（P > 0.05）。对遗传性疾病组患儿的临床表现进行分析,显示不同遗传性疾病表型谱存在异质性及表型重叠性。结论 ISS、GHD和遗传性疾病是儿童身材矮小的主要病因。对存在严重身材矮小的患儿,在除外GHD外,有必要进一步行遗传学检查明确诊断。     

Intraoperative small bowel length measurements and analysis of demographic predictors of increased length

Few studies have measured small bowel length (SBL) in live humans and many textbooks base their “normal” SBL values on cadaver data. Here, we present a series of intraoperative SBL measurements and analyze predictors of increased length. SBL from ligament of Treitz to ileocecal valve was measured in patients undergoing laparotomy for colorectal resection. Patients with Crohn's disease and those who had undergone prior bowel resections were excluded. In the 240 patients studied, mean SBL was 506 ± 105 (285–845) cm. Height was positively associated with increased SBL (P < 0.001) and men had longer SBL than women (533 vs. 482 cm, P < 0.001). A multivariate linear regression model using patient sex, age, height and weight was significant (P = 0.001) and the predictors explained 8% of the variance in SBL. In this model, only height was independently predictive of increased SBL (P = 0.03). Correlation results differed between sexes. In men, height correlated with increased SBL (r = 0.20; P = 0.03), whereas in women it did not. In men, age had a positive correlation with SBL at a trend level (r = 0.17; P = 0.08), whereas in women age had a negative correlation with SBL (r = ?0.18; P = 0.04). The mean SBL was 506 cm in live patients, as compared with the 600–700 cm range derived from prior cadaver studies. Male sex and height had positive correlations with SBL. SBL may decrease with age in women but not in men. Clin. Anat. 26:827–832, 2013. © 2013 Wiley Periodicals, Inc.