胚胎种植前遗传学检测助孕妊娠结局的影响因素研究

背景 育龄期女性胚胎着床失败及流产的最常见原因是胚胎异常,但移植经胚胎种植前遗传学检测(PGT)筛选后的正常胚胎后,仍出现种植失败或流产的原因目前并没有形成统一的结论。目的 分析PGT助孕后种植失败及流产的影响因素。方法 回顾性分析2018年12月至2021年2月在安徽医科大学第一附属医院生殖中心行PGT助孕的329例患者的临床资料,根据患者是否临床妊娠分为临床妊娠组(n=218)和种植失败组(n=111),并将临床妊娠组患者根据妊娠结局分为活产亚组(n=175)和流产亚组(n=43)。比较临床妊娠组和种植失败组,活产亚组和流产亚组的一般情况、促排卵及体外胚胎发育情况。采用多因素Logistic回归分析探讨PGT患者种植失败及流产的影响因素。绘制受试者工作特征(ROC)曲线分析多因素Logistic回归分析筛选出的影响因素对PGT患者发生种植失败及流产的预测价值。结果 多因素Logistic回归分析显示,既往流产次数≥2次〔OR=4.032 0,95%CI(2.423 0,6.710 0)〕、高密度脂蛋白胆固醇(HDL-C)水平低〔OR=3.890 0,95%CI(1.455 0,10...     

分子标记在医学蠕虫遗传多态性研究中的应用

医学蠕虫引起的人兽共患寄生虫病严重危害人类健康。对医学蠕虫进行遗传多态性研究,不仅可以了解其种群的生物学特性和遗传结构,而且有助于揭示它们如何适应寄生环境,从而有助于对寄生虫病流行规律的认识,加深对寄生虫病精准防控的理解。随着分子生物学的发展,DNA条形码、简单序列重复、单核苷酸多态性标记等分子标记已被广泛应用于研究寄生虫个体间及群体间的遗传关系,揭示寄生虫种群的遗传变异、物种的起源进化等。本文对目前常用的三类分子标记在医学蠕虫遗传多态性研究中的应用进行系统综述,以期为相关研究奠定基础。     

基因诊断技术在脊柱结核诊断中的应用现状

脊柱结核是一种常见的肺外结核病。近年来,随着脊柱结核患者逐年增多,不典型脊柱结核患者亦逐渐增多,而不典型脊柱结核诊断较为困难,需要与一般细菌感染、肿瘤以及非结核分枝杆菌感染相鉴别。基因诊断技术是一项诊断脊柱结核的重要工具,对临床不典型脊柱结核的诊断有较高价值。本文将对脊柱结核的流行现状、诊断及基因诊断技术进行综述,以帮助临床工作者对脊柱结核做出更加准确的诊断。     

多囊性肾脏发育不良胎儿的遗传学病因、影像学表现及妊娠结局分析

目的 探究多囊性肾脏发育不良胎儿的遗传学病因、影像学表现及妊娠结局。方法 回顾性分析2017年5月—2023年5月扬州大学附属淮安市妇幼保健院收治的80例多囊性肾脏发育不良胎儿的临床资料,分析其遗传学病因、影像学表现及妊娠结局。结果 80例多囊性肾脏发育不良胎儿中检出11例（13.75%）染色体异常,其中染色体数目异常1例（1.25%）,10例（12.50%）存在染色体拷贝数变异（CNV）。80例多囊性肾脏发育不良胎儿中,39例（48.75%）为左侧多囊性发育不良肾,37例（46.25%）为右侧多囊性发育不良肾,剩余4例（5.00%）为双侧多囊性发育不良肾;单纯泌尿系统异常64例（80.00%）,合并其他系统异常16例（20.00%）,以心血管系统异常（8例）、肢体骨骼异常（3例）和、神经系统异常（3例）最常见。单纯性泌尿系统异常胎儿、合并其他系统异常胎儿的致病性CNV检出率分别为10.94%（7/64）和12.50%（2/16）,差异无统计学意义（P >0.05）。单纯性泌尿系统异常胎儿中,单侧多囊性发育不良胎儿、双侧多囊性发育不良胎儿的致病性CNV检出率分别为9.84%（6/61）和33.33%（1/3）,差异无统计学意义（P >0.05）。对80例多囊性肾脏发育不良胎儿进行随访,失访8例（10.00%）,人工终止妊娠31例（38.75%）,胎死宫内0例（0.00%）,活产41例（51.25%）,其中产后死亡1例（1.25%）。结论 多囊性肾脏发育不良胎儿采用染色体微阵列分析技术可提高遗传学检出率,影像学检查在多囊性肾脏发育不良诊断中具有一定价值,可为多囊性肾脏发育不良胎儿的产前诊断、遗传咨询、预后评估提供依据。     

基于两样本孟德尔随机化方法探讨睡眠与痛风的关联

[目的] 通过两样本孟德尔随机化设计,探讨睡眠与痛风之间的关联。[方法] 从一项包含763 813名参与者的全基因组关联研究(genome-wide association study,GWAS)中获取痛风遗传关联数据。以与打鼾、睡眠时间、睡眠类型、失眠及白日困倦程度等睡眠表型相关的单核苷酸多态性(single nucleotide polymorphism,SNP)作为工具变量,采用逆方差加权(inverse variance weighted,IVW)评估遗传学预测的不同睡眠表型与痛风发生风险的关系。采用MR-Egger回归和孟德尔随机多态性残差和离群值(MR pleiotropy residual sum and outlier,MR-PRESSO)检验进行敏感性分析,以评估工具变量的多效性。进一步采用加权中位数法、简单中位数法、最大似然比法等分析方法检验结果的稳健性与可靠性。[结果] IVW结果显示,遗传学预测的打鼾[优势比(odds ratio,OR)=3.12,95%置信区间(confidence interval,CI)(1.21～8.05),PFDR=0.045]和失眠[OR=1.09,95%CI(1.04～1.15),PFDR=0.005]与痛风发生风险呈正相关,而睡眠时间、睡眠类型及白日困倦程度与痛风发生之间不存在统计学关联。MR-Egger回归提示上述因果关联未受到水平多效性影响,加权中位数法、简单中位数法、最大似然比法得出与IVW相似的结果。[结论] 打鼾、失眠与痛风发生风险呈正相关,纠正打鼾和失眠可能对痛风有一定的预防作用。     

The inheritance of microstructure variation in the song of four generations of Roller canaries

The microstructure of the calls and songs of four generations of Roller canaries was analyzed and compared. Many of the characteristics of the internal structure of the syllable show distributions in the progeny that suggest quantitative inheritance. The presence or absence of an underharmonic and the presence of a block underharmonic show a qualitative type of inheritance.     

Inheritance of male courtship sound characteristics inDrosophila littoralis

Males ofDrosophila littoralis vibrate their wings during courtship to deliver a love song. This consists of 25- to 50-ms-long pulses with a basic frequency of about 250–400 Hz, separated by 250- to 500-ms pauses. When recording the sounds of flies from several localities in Europe, we found that males of one strain from northern Finland displayed courtship sounds with an unusally low wing beat frequency (below 250 Hz). In a genetic analysis utilizing marker stocks, the anomalous frequency was found to be caused by genes on all major autosomes, the strongest factors being on the second chromosome. Interaction between genes on chromosome 2 and on the fused chromosome 3–4 was nonadditive. In low-frequency sounds, the number of cycles in the pulse (CN) was decreased, so that the length of the sound pulse (PL) remained more or less unchanged. We suggest that the genetically and physiologically most thoroughly controlled trait in the sound ofDrosophila littoralis is the length of the pulse.     

Test of genetic heterogeneity of cleft lip with or without cleft palate as related to race and severity

The question of possible heterogeneity among population groups and phenotypic groups on the role of major gene in the etiology of cleft lip with or without cleft palate [CL(P)] was examined using the uniformly collected data in Hawaii. Complex segregation analysis was used to analyze patterns of family resemblance under the mixed model incorporating the effects of major gene and multifactorial inheritance. Analysis of the entire data showed superior fit of the mixed model including the effects of both major gene and multifactorial inheritance over the model of major gene alone or multifactorial inheritance alone. No significant heterogeneity could be detected between the high-incidence group (Oriental or Japanese) and the low-incidence group (non-Oriental) in the underlying general model, although higher heritability was observed in general. When families were classified into "severe" and "mild" phenotypes based on cleft lip vs. cleft lip and palate or unilateral vs. bilateral cleft in the proband, no significant differences could be detected between the two types in the underlying genetic model.     

Integration of the cytogenetic and physical maps of chicken chromosome 17

The chicken genome, like those of most avian species, contains numerous microchromosomes that cannot be distinguished by size alone. Unique properties attributed to the microchromosomes include high GC content and gene density, and an enhanced recombination rate. Previously, microchromosome GGA 17 was shown to align with the consensus genetic linkage group E41W17, and bacterial artificial chromosome (BAC) clones containing E41W17 markers were isolated and assigned on the physical BAC map as well as the recently assembled draft chicken genome sequence. For this study, these same BACS were utilized as probes for fluorescence in-situ hybridization (FISH) to develop the GGA 17 cytogenetic map. Here we detail the chromosome order of ten BAC DNAs, thereby deriving a cytogenetic map of GGA 17 that is simultaneously integrated with both the linkage map and genome sequence. The location of the FISH probes together with the morphological appearance of the chromosome suggested that GGA 17 is an acrocentric chromosome whose cytogenetic map orientation is reversed from that currently indicated by the linkage map and draft genome sequence. The reversed orientation and the centromere location of GGA 17 were confirmed experimentally by dual-colour FISH hybridization using terminal BACs and the centromere-specific CNM oligonucleotide as probes. An advantage of this cyto-genomic approach is the improved alignment of the sequence and linkage maps with cytogenetic features such as the centromere, telomeres, p and q arms, and staining patterns indicating GC versus AT content.     

FG syndrome in a premature male

A 30-week premature male infant is presented with dolichocephaly, frontal bossing, down-slanting palpebral fissures, hypertelorism, long philtrum, micrognathia, cleft palate, and imperforate anus. He is the fifth patient to be presented with FG syndrome and sensorineural deafness. The patient's syndromic manifestations became more obvious during an inpatient observation period of 3 months.