FGFR1基因rs13317多态性与中国华东地区部分人群非综合征性唇腭裂的相关研究

目的 探讨FGFRI基因rs13317位点多态性与中国华东地区部分人群非综合征性唇腭裂发生的相关性.方法 选取50个NSCL/P的核心家庭为实验组,选取50个正常儿童作为对照组.应用聚合酶链式反应-限制性片段长度多态性方法,进行FGFR1基因rs13317多态性检测.进行人群关联研究分析、病例组核心家庭TDT、HHRR、FBAT等遗传检验统计分析.结果 对患儿组和对照组等位基因频数进行病例对照研究发现,分布差异无统计学意义(P>0.05);病例组核心家庭TDT检验X2=0.2,P>0.05;HHRR检验x2=0.209,P>0.05;FBAT检验Z=0.447,P>0.05.结论 FGFR1基因rs13317位点多态性与中国华东地区部分人群NSCL/P的发生无相关性,可能不是该人群NSCL/P的主要易感因素.     

SKI基因多态性与中国华东地区部分人群非综合征性唇腭裂的相关研究

目的：探讨SKI基因257C〉G多态与中国华东地区部分人群非综合征性唇腭裂（NSCL／P）发生的关系。方法：采用病例对照设计，应用聚合酶链式反应-限制性片段长度多态性（PCR-RFLP），进行SKI基因257C〉G多态性检测，并进行遗传统计分析。结果：对于SKI基因257C〉G，8个杂合子父母及患儿的核心家庭TDT检验（x^2=3．56，P〉0．05）；50例NSCL／P患儿和50例正常儿童基因型及等位基因频数病例对照研究（x^2=2．08，P〉0．05）。结论：SKI基因257C〉G位点多态与中国华东地区部分人群NSCL／P的发生无相关性，可能不是NSCL／P的主要易感基因。     

云南汉族非综合征性唇腭裂与p53基因多态性的相关性研究

目的:分析p53基因单核苷酸多态性(SNPs)位点的多态性,探究云南汉族非综合征性唇腭裂与p53基因的相关性。方法:选取2016年1月-2018年12月于笔者医院就诊的非综合征性唇腭裂患儿100例为试验组,选取医院同期无先天性畸形正常患儿100例为对照组。采用Taqman探针荧光定量PCR法对p53基因的SNPs位点rs12947788和rs1042522进行基因分型,并用χ^2检验和Logistic回归分析多态位点与非综合征性唇腭裂的相关性。结果:p53的基因SNPs位点rs12947788的等位基因变体A携带者(AA+GA vs GG)发生非综合征性唇腭裂的风险增加(OR=1.393,95%CI 1.030~1.884,P=0.032)。rs1042522(CC vs CG+GG)增加吸烟者母亲生下NSCL/P患儿的风险(OR=2.561,95%CI=1.146~5.721,P=0.022)。rs12947788(AA+GA vs GG)可明显增加有饮酒史母亲(OR=3.235,95%CI=1.158~9.040,P=0.025)生下NSCL/P患儿的风险。结论:云南汉族人群非综合征性唇腭裂与p53基因rs1042522、rs12947788多态具有一定的相关性。     

Msx1基因多态性与非综合征性唇腭裂

脊椎动物Msx1基因在胚胎发育过程中多个部位表达,该基因是颅面、四肢和外胚层器官正常形态形成所必需。近年研究表明,Msx1基因多态性与     

α转化生长因子基因BamHⅠ限制酶切片段长度多态性与广东地区人群非综合征性唇腭裂的关系

目的 探讨中国广东地区人群非综合性唇腭裂与α转化生长因子(transforming growth factor α,TGF-α)基因多态性的关系.方法 应用聚合酶链式反应-限制酶切片段长度多态性(PCR-RFLP)核苷酸分型技术,以BamH Ⅰ限制性内切酶消化PCR扩增产物,对107例非综合征性唇裂或唇腭裂(nonsyndromic cleft lip with or without cleft palate,NSCL/P)患者,136例正常人为对照组的TGF-α/BamH Ⅰ等位基因多态性进行分析.结果 NSCL/P患者的A1等位基因频率比正常对照组明显增高,差异有统计学意义(P＜0.05).NSCL/P患者中,有家族史与无家族史者等位基因频数,差异无统计学意义(P＞0.05);双侧NSCL/P患者与单侧NSCL/P患者的TGF-α/BamH Ⅰ基因型频率,差异无统计学意义(P＞0.05).结论 中国广东地区人群NSCL/P患者TGF-α基因中存在BamH Ⅰ多态性位点,TGF-α基因BamH Ⅰ位点与中国广东地区人群NSCL/P的发生有关.     

TBX22基因多态性与非综合征性唇腭裂相关关系的研究

目的：探讨TBX22基因多态性与中国华东地区部分人群非综合性征唇腭裂的关系。方法：选取80个核心家庭的80例NSCL/P患儿为实验组;选取80例正常儿童作为对照组。分别提取患儿及其父母和正常儿童的外周血DNA。应用聚合酶链式反应（polymerase chain reaction,PCR）分别扩增TBX22基因编码区外显子3的全部序列（包含G359A、A361G突变位点）,然后运用DNA测序技术,检测华东地区核心家庭的TBX22基因编码区的突变情况,分析记录基因型。根据测序所得基因型数据,比较患者组与正常儿童的基因型和等位基因频率,并对核心家庭的数据进行单倍型相对风险分析（haplotype relative risk,HRR）,对父母至少一方为杂合子的核心家庭进行传递不平衡检验（transmitted disequilibrium test,TDT）。结果：TBX22基因A361G未检出多态性;G359A检测出基因多态性,实验组和对照组儿童进行病例对照研究发现基因型频数分布差异有统计学意义（P〈0.05）。而两组间单体型相对风险率的分析（HRR）和传递不平衡检验（TDT）结果均无统计学意义（P〉0.05）。结论：TBX22基因G359A位点多态性与中国华东地区部分人群NSCL/P的发生相关,可能是NSCL/P的易感基因。     

TGF-β3基因SfaNⅠ多态性与非综合征性唇腭裂的遗传易感性

目的探讨TGF-β3基因SfaNⅠ多态性与中国人群发生非综合征性唇腭裂（NSCL／P）的关系。方法选取48个核心家庭的48例NSCL／P患儿为实验组；选取48例正常儿童为对照组。应用聚合酶链式反应——限制性片段长度多态性方法，进行TGF-β3基因SfaNⅠ多态性检测。对48例患儿行以其父母及48例正常儿童为对照的研究方法。计算48例患儿与其父母的传递失衡指数（TDT）和基于单体型的单体型相对危险度（HHRR）。计算48例患儿与48例正常儿童的基因型及基因频数。结果48个核心家庭中，有30对杂合子父母，其TDT（Х^2）=0．024,P〉0．05；HHRR（Х^2）=0．035，P=0．852〉0．05；OR=0．933，95%CI=0．448-1．940。48例患儿和48例正常儿童的基因型及等位基因频数。Х^2=3．43,P〉0．05。结论TGF-β3基因SfaNⅠ位点多态性可能不是中国人群发生NSCL／P的遗传易感因素。     

长春市汉族人群COL1A1启动子区多态性与骨质疏松症的相关性

目的研究长春市汉族人群Ⅰ型胶原α1链基因(COL1A1)启动子区-1997G/T、+1245G/T多态性及其与骨质疏松的关系。方法 (1)抽取受试人群外周静脉血5 ml,提取血清DNA。(2)应用实时荧光定量PCR仪扩增目的基因的DNA片段。(3)采用TaqMan探针法对-1997G/T及+1245G/T位点进行等位基因鉴别。(4)应用双能X线骨密度仪测定骨密度(BMD),将374例受试人群分为骨密度正常、骨质疏松、骨质疏松性骨折3组。结果长春市汉族正常人群COL1A1-1997G/T转换中,GG基因型占38.40%,GT基因型占46.38%,TT基因型占15.22%,以GT基因型为主;骨质疏松患者女性GG等位基因型所占比例大于男性,GG基因型占44.39%,GT基因型占43.37%,TT基因型占12.24%;骨质疏松骨折患者GG基因型为主,占47.50%,GT基因型占35.00%,TT基因型占17.50%。骨质疏松组女性GG基因型BMD低于GT、TT基因型,但差异无统计学意义(P均0.05);骨质疏松骨折组女性GG基因型BMD显著低于GT、TT基因型(P均0.05)。COL1A1+1245位点G/T转换,在正常人群中发现GT杂合型2例,占总数的0.53%,其余均为GG基因型。结论 COL1A1-1997G/T转换中正常人群以GT基因型为主,骨质疏松患者和骨质疏松骨折患者以GG基因型为主。骨质疏松患者和骨质疏松性骨折患者女性GG基因型BMD均低于GT、TT基因型。COL1A1-1997G/T与BMD显著相关,+1245G/T与BMD无相关性。     

ERAP1基因单核苷酸多态性与中国汉族人群强直性脊柱炎的易感性关联分析

目的 :探讨内质网氨基肽酶1基因(endoplasmic reticulum aminopeptidase 1,ERAP1)单核苷酸多态性(SNP)(rs27434、rs27044、rs30187)与中国汉族人群强直性脊柱炎(ankylosing spondylitis,AS)的关系。方法 :收集2008年1月~2012年1月在我院病房及门诊就诊的AS患者195例,203例健康体检者作为正常对照组。采集AS、正常对照组的血液样本,提取基因组DNA,设计针对ERAP1基因rs27434、rs27044、rs30187位点的PCR引物、Taq Man探针,利用Taq Man探针技术对rs27434、rs27044、rs30187位点进行PCR荧光分型。采用SPSS 16.0软件进行Hardy-Weinberg平衡、等位基因频率、基因型频率及其与AS患病风险分析。结果:所有SNP位点的基因型频率符合Hardy-Weinberg平衡定律(P0.05);各位点的基因型分布在病例组和对照组间无显著统计学差异(rs27434位点,P=0.439;rs27044位点,P=0.76;rs30187位点,P=0.48);此外,两组间的等位基因频率差异亦无统计学意义(rs27434位点,G:病例组为50.8%,对照组为48.3%;A:病例组为49.2%,对照组为51.7%。rs27044位点,C:病例组为52.8%,对照组为55.0%;G:病例组为47.2%,对照组为45.0%。rs30187位点,C:病例组为57.4%,对照组为52.0%;T:病例组为42.6%,对照组为48.0%)(P0.05)。结论:ERAP1基因单核苷酸多态性rs27434、rs27044、rs30187与中国汉族人群AS的易感性无关。     

南京地区汉族人群TRAIL基因多态性与前列腺癌的易感性研究

目的:探讨南京地区汉族人群中肿瘤坏死因子相关凋亡诱导配体(TRAIL)基因多态性与前列腺癌(PCa)易感性的关系。方法:采用病例对照研究,提取187例PCa患者和237例非PCa健康人(对照组)外周血基因组DNA,应用聚合酶链反应-连接酶特异检测技术(PCR-LDR)分析186例PCa患者和237例对照组TRAIL基因-716位点的多态性,比较不同基因型与PCa易感性的关系。结果:TRAIL基因启动子区存在一个SNP位点(-716A/G),基因型分别为AA型、AG型和GG型;Logistic回归分析显示,携带AG、GG和AG+GG基因型的个体与PCa发病风险之间无明显相关性(OR=0.89,95%CI=0.54～1.47;OR=0.94,95%CI=0.69～1.27;OR=0.87,95%CI=0.54～1.41)。结论:中国南京地区汉族人群中TRAIL基因-716位点基因多态性对PCa易感性无明显影响。     

先天性唇、腭裂对患儿呼吸系统顺应性的影响

目的 探讨先天性辰、腭裂对患儿呼吸系统顺应性（ＣＴ）的影响。方法 唇裂或腭裂病儿２４０例（观察组）,非唇腭裂病儿６０例（对照组）均为择期手术患,按年龄段：１～１２月、１～３岁、４～７岁、８～１２岁,各分为５个亚组。全麻诱导气管内插管后,行机械通气,保持ＰＥＴＣＯ２４～４．６ｋＰａ,用Ｄａｔｅｘ Ｕｌｔｉｍａ监测仪测定ＣＴ。结果 与非唇裂同一年龄组ＣＴ值相比,唇裂各年龄组、腭裂１～１２月及１～３岁组     

MTHFR基因A1298C多态与非综合征性唇腭裂的遗传易感性

目的探讨MTHFR基因A1298C多态性与中国人群非综合征性唇腭裂发生的关系。方法应用聚合酶链式反应-限制性片段长度多态性方法,进行MTHFR基因A1298C多态性检测,用病例对照方法进行统计分析。结果75个非综合征性唇腭裂核心家庭中,有27个杂合子父母,对其进行以父母为对照的病例对照研究,计算TDT,χ2=4.00,P<0.05,并对76例非综合征性唇腭裂患儿和60例正常儿童的基因型及等位基因频数,进行对照研究,χ2=4.42,P<0.05。结论MTHFR基因A1298C位点多态性可能是中国人NSCL/P的遗传易感因素。     

5459例唇腭裂患者临床资料分析

目的：对20年来唇腭裂的治疗及唇腭裂患者的构成情况进行回顾。方法：对5459例唇腭裂患者病历资料分类整理，进行统计学分析。结果：唇腭裂各类型性别比例差异有显著性意义，唇腭裂患者的首次手术年龄差异有显著性意义，其主要修复方式随年代的变化而不同。结论：唇腭裂患者中男性明显多于女性。自1980年以来，唇腭裂患者的首次手术年龄呈逐渐下降趋势，主要手术方法也有很大的变化。     

MTHFR基因C677T和A1298C多态与中国部分人群非综合征性唇腭裂的相关研究

目的 探讨MTHFR基因C677T和A1298C多态与非综合征性唇腭裂（NSCL／P）发生的关系。方法 采用病例对照设计，应用聚合酶链式反应-限制性片段长度多态性（PCR—RFLP）方法，进行亚甲基四氢叶酸还原酶（MTHFR）基因C677T和A1298C多态性检测，并进行遗传统计分析。结果 对于MTHFR基因C677T，48个杂合子父母及患儿的核心家庭TDT检验（X^2=0．02，P〉0．05）；76例NSCL／P患儿和60例正常儿童基因型及等位基因频数病例对照研究（X^2=9．91，P〈0．05）。而MTHFR基因A1298C，27个杂合子父母及患儿的核心家庭TDT检验（X^2=4．00，P〈0．05）；76例NSCL／P患儿和60例正常儿童基因型及等位基因频数病例对照研究（X^2=4．42，P〈O．05）。结论 MTHFR基因C677T位点多态与NSCL／P的发生相关，MTHFR基因A1298C位点多态可能是NSCL／P的遗传易感因子。     

A revised classification of the cleft lip and palate

BACKGROUND:

Submucous cleft palate is characterized by muscular diastasis of the velum in the presence of intact mucosa with variable combinations of bifid uvula and hard palatal defect. Submucous cleft palate is indicated as a separate entity in most previous classifications but it has never been properly classified on an anatomical basis.

OBJECTIVES:

To revise the Smith-modified Kernahan ‘Y’ classification of cleft lip and palate deformities, and to describe the different anatomical subtypes of submucous cleft palate.

METHODS:

The present study was conducted in Hayatabad Medical Complex, Abasin Hospital and Aman Hospital Peshawar, Pakistan, from November 2010 to December 2011. All patients who presented to the outpatient departments with cleft lip and palate, with the exception of previously operated cases, were included. All cases were described according to the Smith-modified Kernahan ‘Y’ classification and the authors’ revised Smith-modified Kernahan ‘Y’ classification. All of the data were organized and analyzed using SPSS version 17 (IBM Corporation, USA).

RESULTS:

A total of 163 cases of cleft lip and palate deformities were studied, of which 59.5% were male and 40.5% were female. Smith modification of the Kernahan ‘Y’ classification completely described the cleft deformities in 93.9% of patients. However, while the Kernahan ‘Y’ classification represented the submucous cleft palate, it did not describe its different anatomical subtypes in 6.13% of patients. The revised Smith-modified Kernahan ‘Y’ classification completely described the cleft deformities of the entire study population, including the different submucous cleft palate patients.

DISCUSSION:

The Smith alphanumeric modification of the Kernahan ‘Y’ classification of cleft lip and palate came into existence after a long search and a series of modifications over the past century. This classification system describes the cleft region, site of the cleft, degree of the cleft, rare and asymmetrical clefts, and are computer database friendly. However, this classification did not describe the different anatomical subtypes of submucous cleft palate that have variable relationships with velopharyngeal insufficiency.

CONCLUSION:

The revised Smith-modified Kernahan ‘Y’ classification described in the present study can describe all types of cleft lip and palate deformities in addition to the different types of submucous cleft palate deformities.     

双侧唇裂或唇腭裂修复后口哨畸形的分级与修复

目的 对双侧唇裂或唇腭裂修复后口哨畸形的严重程度进行分级。方法 将我院136例双侧唇裂或双侧唇腭裂术后上唇口哨畸形患者作为研究对象，观察上颌前门齿牙冠及相应牙龈暴露的程度将口哨畸形分为Ⅳ级。Ⅰ级： 牙冠显露1／2；Ⅱ级： 牙冠全显露或 牙冠全显露伴 显露近中纵行牙冠1／2—2／3；Ⅲ级： 牙冠全显露和附丽龈显露1／2或 牙冠全显露伴附丽龈显露1／2及 牙冠显露2／3以上；Ⅳ级： 牙冠及相应牙龈全显露伴 近中牙冠纵显露2／3以上。口哨畸形严重程度与双侧唇裂或唇腭裂修复术式的关系一并进行分析。结果 口哨畸形Ⅰ级者60例，占44．2％；Ⅱ级者47例，占34．5％；Ⅲ级者16例，占11．8％；Ⅳ级者13例，占9．5％。结果 显示Ⅰ级和Ⅱ级口哨畸形明显多于Ⅲ级与Ⅳ级，前者为后者的3．7倍。结论 对双侧唇裂或唇腭裂修复后口哨畸形的分级具有良好的临床参考价值，为修复上唇口哨畸形选择修复方法提供了客观依据。     

Report of a hemohiliac's cleft lip and palate repair — ten year follow-up

Summary The association of cleft lip and palate with hemophilia is rare. Recent advances in hematology have made it possible for hemophiliacs to have surgery without problems, using prior administration of anti-hemophilic globulin. The case reported was a hemophilia B patient with unilateral cleft lip and palate. When primary cheiloplasty was carried out at four months of age, there were serious bleeding problems during and after the operation. Palatoplasty was performed at age two and repair of secondary deformity of the cleft lip at age eight. On both occasions a prothrombin complex was administered, and no problem was experienced in either procedure. A ten year follow-up is presented.     

Physical characteristics of young men with cleft lip,with or without cleft palate,and cleft palate only

We report the weight, stature, body mass index (BMI), and muscular strength of men about 19 years old who have cleft lip, either with or without cleft palate (CLP), or cleft palate only (CP). Data were obtained from the Swedish National Service enrolment register for the years 1991–97, and concerned 335 men with CLP and 88 with CP, who were compared with a control group of 272 879 men. The data showed that those with CLP and CP were significantly lighter than controls. Their stature in the CLP group was similar to that in controls, but those with CP significantly shorter. These findings imply that men with CLP had a significantly lower BMI whereas men with CP had a similar BMI compared with controls. Those with CLP did not differ as regards to muscular strength, but those with CP were significantly weaker than controls.     

Incidence of positive screening for obstructive sleep apnea in patients with isolated cleft lip and/or palate

OBJECTIVE:

To determine the incidence of obstructive sleep apnea (OSA) in children with isolated cleft lip and/or palate (CL/P).

METHODS:

The present prospective study was performed at a pediatric tertiary care centre. Consecutive patients evaluated at the cleft clinic from January 2011 to August 2013 were identified. Patients’ families prospectively completed the Pediatric Sleep Questionnaire (PSQ), a validated tool used to predict moderate to severe OSA. Patients with CL/P and an underlying syndrome or other craniofacial diagnosis were excluded. A positive OSA screen was recorded if the ratio of positive to total responses was >0.33. Risk factors associated with a positive screen were identified using the Student’s t or ANOVA test.

RESULTS:

A total of 867 patients completed the PSQ, 489 of whom with isolated CL/P met inclusion criteria. The mean age was 8.4 years. The overall incidence of positive screening was 14.7%. The most commonly reported symptoms among positive screeners were ‘fidgets with hands or feet’ (73.6%), ‘interrupts others’ (69.4%) and ‘mouth breather during the day’ (69.4%). The most sensitive items were ‘stops breathing during the night’ and ‘trouble breathing during sleep’, with positive predictive values of 0.78 and 0.67, respectively. Sex, body mass index, ancestry and cleft type were not significantly associated with increased risk for positive screening.

CONCLUSION:

One in seven children with isolated CL/P screened positively for OSA according to the PSQ. This finding highlights the potential importance of routine screening in this at-risk group.