Duplication 10q confirmed by DNA in situ hybridization

Partial duplication of 10q is a recognizable clinical entity. In most of the reported cases, the trisomic segment is identified by a balanced translocation state in a parent. Verification remains a problem in de novo cases. However, the recent availability of whole chromosome probes allows for confirmatory diagnosis of suspected cases. We describe a case of de novo duplication (10q) wiht verification using DNA in situ hybridization. © 1994 Wiley-Liss, Inc.     

山西地区汉族人群六个短串联重复序列基因座的遗传多态性

目的 分析山西地区汉族D9S925、D11S2368、D14S608、D15S659、D17S1290、D20S470等6个短串联重复序列(short tandem repeat,STR)基因座的遗传多态性.方法 根据GenBank资料合成D9S925、D11S2368、D14S608、D17S1290、D20S470基因座引物,自行设计D15S659引物,对山西汉族194个无关个体DNA进行PCR扩增,3130型基因分析仪电泳分析,GeneMapper(R)3.2分析等位基因片段大小,测序后命名.结果 6个STR基因座基因型频率分布符合Hardy-Weinberg平衡(P＞0.05).6个STR基因座的多态性信息含量在0.750～0.860之间,杂合度在0.756～0.894之间,个体识别力在0.920～0.965之间,非父排除概率在0.519～0.784之间,累积非父排除率为0.9988,累积个体识别能力为0.99999998.结论 本次研究的6个STR基因座在山西汉族群体中等位基因频率分布均匀,多态性好,适用于法医学亲子鉴定及个人识别,可作为现有基因座的补充.     

山西地区汉族人群六个短串联重复序列基因座的遗传多态性

目的 分析山西地区汉族D9S925、D11S2368、D14S608、D15S659、D17S1290、D20S470等6个短串联重复序列(short tandem repeat,STR)基因座的遗传多态性.方法 根据GenBank资料合成D9S925、D11S2368、D14S608、D17S1290、D20S470基因座引物,自行设计D15S659引物,对山西汉族194个无关个体DNA进行PCR扩增,3130型基因分析仪电泳分析,GeneMapper(R)3.2分析等位基因片段大小,测序后命名.结果 6个STR基因座基因型频率分布符合Hardy-Weinberg平衡(P＞0.05).6个STR基因座的多态性信息含量在0.750～0.860之间,杂合度在0.756～0.894之间,个体识别力在0.920～0.965之间,非父排除概率在0.519～0.784之间,累积非父排除率为0.9988,累积个体识别能力为0.99999998.结论 本次研究的6个STR基因座在山西汉族群体中等位基因频率分布均匀,多态性好,适用于法医学亲子鉴定及个人识别,可作为现有基因座的补充.     

Twin birth: An additional risk factor for poorer quality maternal interactions with very preterm infants?

Background

Twin birth can be considered an additional risk factor for poor interactions between mothers and their very preterm (VP; < 32 weeks' gestation) infants.

Aims

To explore if mothers of (VP) twins experience higher levels of stress than mothers of singletons and if mother–twin infant dyads experience poorer quality interactions.

Method

Mothers of VP twin infants (N = 17) were closely matched to mothers of VP singleton infants (N = 17). Mother–infant interaction was assessed before discharge from hospital and during a home visit at three months corrected age using the Nursing Child Assessment Teaching Scale (NCATS). Mothers' responsiveness to their infants was assessed using the Responsivity subscale of the Home Observation for Measurement of the Environment (HOME) and mothers completed the Parenting Stress Index short form (PSI-SF).

Results

Mothers of twins had significantly lower HOME responsiveness scores (median 9 vs. 10) at three months corrected age and were more likely to have total PSI-SF scores in the clinical range (> 90th percentile) compared to mothers of singletons (Fishers exact probability = 0.05). Twin infants had lower mean Total Child Domain NCATS scores than singletons both at discharge (9.07 vs. 11.33) and at three months corrected age (13.18 vs. 15.71) indicating they were less responsive communicators.

Conclusions

VP twins present a greater challenge than singletons as their mothers experience high levels of parenting stress. Although mothers appear to compensate for twin infants' poorer clarity of cues in a structured, one to one task, mothers of twins were less responsive than mothers of singletons in an unstructured setting.     

身材矮小并骨骼畸形儿童的临床与X线特征

目的分析身材矮小并骨骼畸形儿童的临床及X线特征,以便准确诊断和及时治疗。方法对120例身材矮小并骨骼畸形患儿(男69例,女51例)进行病史采集,包括出生史、喂养史、生长发育史及家族史,分析其临床表现和X线特征,摄左腕正位X线片进行骨龄评价(Gruelich-Pyle法),行血钙、磷、碱性磷酸酶及染色体核型等相关实验室检查。结果矮小并骨骼畸形120例患儿中,软骨发育不全36例(占30.0%),Turner综合征20例(占17.0%),多发性骨骺发育不良10例(占8.0%),迟发型脊柱骨骺发育不良7例(占5.8%),成骨不全2例(占1.6%),先天性脊柱骨骺发育不良1例(占0.8%),颅骨锁骨发育不全1例(占0.8%),黏多糖病Ⅳ型、假性软骨发育不全各5例(占4.2%),低磷抗维生素D佝偻病9例(占7.5%)。不明原因短肢矮小24例(占20%)。病例中匀称性矮小27例(占22.5%)。非匀称性矮小93例(占77.5%),其中短肢矮小80例,包括短上肢36例(短上臂35例,短前臂1例),短下肢20例,上、下肢匀称性短小24例;短躯干13例。短肢矮小占非匀称性矮小的86%。骨龄落后46例,提前15例,正常59例。结论导致矮小并骨骼畸形的疾病中以遗传性骨病为主。对临床和X线特征进行分析在矮小并骨骼畸形的诊断及鉴别诊断中十分重要。部分患儿可伴骨龄发育落后。     

DNA多态性分析技术检测异基因造血干细胞移植后植活的证据

目的探讨DNA多态性分析技术检测患者移植后植入状态的可行性及在患者移植的预后和疾病复发的预警作用。方法应用DNA多态性分析技术对66例异基因造血干细胞移植(Allo-HSCT)术中患者移植前、后及供者的基因分型进行检测,并对25例进行追踪监测和动态分析。结果48例Allo-HSCT术后,患者基因分型表现为供者源型,13例表现为受者源型,5例表现为嵌合状态型;通过对25例追踪监测和动态分析,发现2例供者源型转为受/供者嵌合状态型,4例嵌合状态型转为供者源型,其他未见变化。结论DNA多态性分析技术可快速、准确地检测患者移植物的植入状态,为临床移植提供准确、可靠的实验指标,为进一步制定治疗方案提供依据。     

IVF和ICSI中多原核受精卵的发育及遗传多态性分析

目的:了解IVF和ICSI治疗周期中多原核受精卵的发育情况及其基因座遗传多态性。方法:分别收集IVF和ICSI治疗中的废弃多原核(≥3PN)受精卵315个和67个,进行体外培养,观察比较其发育能力,并复合扩增多原核来源的1株胚胎干细胞和2个囊胚细胞DNA的15个短串联重复序列(STR)基因座,利用3100遗传分析仪对其进行STR基因座多态性检测。结果:IVF组和ICSI组的多原核受精卵卵裂率无显著性差异(P>0.05),但IVF组胚胎停育率和囊胚形成率显著低于ICSI组(P<0.01)。STR基因座多态性检测显示,IVF组3PN受精卵来源的胚胎干细胞为典型的三倍体特征,但ICSI组4PN受精卵来源的2个囊胚未表现多倍体特征。结论:多原核受精卵有继续发育能力,其中IVF组多原核来源胚胎干细胞表现遗传物质倍性改变,而ICSI组多原核来源囊胚无遗传物质倍性变化。     

Genetics: Direct Comparison of Detection Systems Used for the Development of Single-Cell Genetic Tests in Preimplantation Genetic Diagnosis

Purpose: Single-cell polymerase chain reaction (PCR) requires efficient amplification and accurate detection. We compare the accuracy of heteroduplex, fluorescent-fragment, and fluorescent single-strand conformation polymorphism (F-SSCP) analysis as detection systems for analysis of a PCR assay developed for preimplantation genetic diagnosis. Methods: A single-cell, fluorescent multiplex PCR assay was developed for the cystic fibrosis F508 mutation and the short tandem repeat, D21S11. Detection systems were compared by analyzing blinded PCR products. Results: Amplification rates for cystic fibrosis were 89% by heteroduplex and 91% by fragment analysis, while it was 72% for D21S11 by fragment analysis. No difference in allele dropout was detected for cystic fibrosis by any method (2%). Overall accuracy was high, >97%, although SSCP was the least accurate. Conclusions: Heteroduplex and fragment analysis proved equal in the diagnosis of a single amplified locus. We determined that fragment analysis allows maximal accuracy of detection and permits analysis of a second loci, controlling for DNA contamination and allelic dropout.     

Intensive short courses in biostatistics for fellows and physicians

At both of our universities we teach (with colleagues) introductory courses in statistics for fellows and physicians. We do not expect that those taking these courses will be able to do their own statistical work, but rather the intention is for them to 'learn the language' and to facilitate future collaboration. Basic principles of study design are introduced in the courses, as well as some of the most common statistical procedures. We will discuss the factors (what works and what does not) that may contribute to a successful course, a comparison to other courses, and our self-evaluation strategy. Finally, we will cover the financial arrangements that we have made when teaching these courses.