45,XY,dic(12;13)(12pter→cen→12q24∷13p13→cen→13qter)一例

患者 男,31岁,结婚6年,性生活正常,未采取任何避孕措施,妻未孕.体检:智力发育正常,身材瘦小,身高154cm,肢体匀称,外生殖器无畸形.睾丸体积左10 mL,右10 mL,附睾无结节,扪及双侧输精管;精液检查:量1.4 mL,色灰白,液化时间20 min,精液中未见精子;精浆生化检查:果糖定性阳性,定量3.81 g/L (正常参考值:0.87～3.95g/L);酸性磷酸酶66.48 U/次射精(正常参考值＞200 U/次射精);中性α-葡萄糖苷酶11.40 U/mL(正常参考值:35.1～87.7 U/mL).     

小鼠→大鼠异种移植耐受模型的建立

目的：用非清髓方法建立小鼠→大鼠混合嵌合体模型，探讨免疫耐受机制。方法：给SD大鼠亚致死全身照射(TBI)后，4h内输入Balb／c小鼠骨髓细胞(BMC)，2d后腹腔注射环磷酰胺(CTX)，分别于BMT后30、60和90d，检测小鼠源性BMC在大鼠体内植活情况。通过皮肤移植、迟发超敏反应(DTH)和混合淋巴细胞反应(MLR)检查，探讨其耐受机制。结果：经处理大鼠外周血可测出小鼠源性嵌合体，皮肤移植、DTH和MLR检查显示对Balb／c小鼠产生特异性耐受，且较持久。结论：应用7．5Gy TBI 腹腔注射50mg／kg CTX 供体BMT、可成功建立小鼠→大鼠混合嵌合体模型诱导特异性耐受，嵌合体与耐受有关系。     

凝血因子V169G→A基因突变的研究分析

目的 研究分析中国新疆地区健康人群中FV1691G→A基因突变的发生率。方法 凝血因子V(coagulation factor V)在凝血过程中是一种重要的辅因子,其基因中一个点突变1691G→A,使它对抗凝血系统中的一种血浆蛋白质C(APC)的失活作用而产生抗性,从而使血栓发生风险增大。应用多聚酶链反应-限制性片段长度多态性分析(PCR-RFLP),对新疆地区98例汉族、67例维吾尔族和54例哈萨克族健康个体进行研究分析。结果 哈萨克族人群中检出2例FV Leiden 1691G→A突变杂合子;汉族和维吾尔族人群中均未发现该突变类型。结论 中国新疆地区哈萨克族人群中存在FV Leiden基因突变,而汉族和维吾尔族人群中未检测到该类型突变,FV Leiden的发生存在着地区、种族差异,FV Leiden突变可能不是新疆地区人群静脉血栓(VT)发病的主要危险因素。     

凝血因子Ⅴ 1691G→A基因突变的研究分析

目的 研究分析中国新疆地区健康人群中FV 1691G→A基因突变的发生率。方法 凝血因子Ⅴ(coagulation factorⅤ)在凝血过程中是一种重要的辅因子，其基因中一个点突变1691G→A，使它对抗凝血系统中的一种血浆蛋白质。C(APC)的失活作用而产生抗性，从而使血栓发生风险增大。应用多聚酶链反应一限制性片段长度多态性分析(PCR-RFLP)，对新疆地区98例汉族、67例维吾尔族和54例哈萨克族健康个体进行研究分析。结果 哈萨克族人群中检出2例FV Leiden 1691G→A突变杂合子；汉族和维吾尔族人群中均未发现该突变类型。结论 中国新疆地区哈萨克族人群中存在FV Leiden基因突变，而汉族和维吾尔族人群中未检测到该类型突变，FV Leiden的发生存在着地区、种族差异，FV Leiden突变可能不是新疆地区人群静脉血栓(VT)发病的主要危险因素。     

Ullrich-Turner综合征具有Xp11.4→p22.31中间缺失

X短臂缺失是罕见的,而X部分缺失比X短臂完全缺失更为少见。作者报告一例具有Xp中间缺失的Ullrich-Turner综合征(UTS)女孩。患者16岁,身高137cm,体重40kg。上睑下垂,眼睑组织略向上倾斜。耳长,颈短无颈蹼。后发际低,胸部宽大,乳距宽,无青春期乳房发育。腋毛和阴毛缺如,阴唇不发育。肘外翻,左手有单一横折痕。睑部、躯干和四肢有许多痣。实验室血液学检查及肝功能分析皆正常。内分泌检查发现血清T3、T4含量略低     

部分三体1(q42→ter)

本文报道了三个近亲婴儿和一个20周的胎儿共四例。这四例均有严重的先天性发育异常,并且他们都具有相同的1号染色体的部分三体(1q42→ter)。根据家系调查和细胞遗传学研究发现,四例是在一个大的家系中由于平衡易位染色体发生分离而产生的。作者认为他们的发现使人们描述一种新的综合征(1q42→ter综合征)的轮廓成为可能。这种新的综合征的典型表现如下:子宫内发育时期以及产后时期都有严重的发育迟缓,     

1例具有46,X,derX(qter→p22.1::q21.2→qter)核型的Turner's综合征

１例具有４６，Ｘ，ｄｅｒＸ（ｑｔｅｒ→ｐ２２．１：：ｑ２１．２→ｑｔｅｒ）核型的Ｔｕｒｎｅｒ＇ｓ综合征苏州医学院附属儿童医院儿科研究室（２１５００３）何军病例患者，７９年５月出生，社会性别女，因身材矮小，第二性征未发育来院就诊。父母为非近亲婚配，无家...     

46,XY,inv(10)(qter→q11::pter→q11)臂间倒位一家系二例

病例：先证者：男，38岁，汉族，智力发育正常。近3年逐步出现双下肢僵硬、剪刀步态、易跌倒。检查发现脑神经、上肢正常，双下肢肌张力增高，肌力减退，腱反射亢进，锥体束病理征阳性。细胞遗传学检查：取外周血按常规方法制备染色体，核型为46,XY,inv（10）（qter→q11：：pter→q11），为染色体臂间倒位携带者（核型见图1）。先证者父亲，68岁，婚后生育1儿1女。中年起病，开始出现双下肢乏力，     

脂蛋白脂肪酶Pro207→Leu基因突变致高甘油三酯血症

目的探讨高甘油三酯血症与脂蛋白脂肪酶基因突变之间的内在联系.方法采用PCR-SSCP和DNA测序技术,对1例随访多年的高甘油三酯血症患者LPL基因第1～9个外显子、部分内含子和5'端调节区进行筛查.结果该患者经检测确定为LPL外显子5 Pro207→Leu错义突变.对先证者全家进行家系分析,证实家系中先证者及其父亲均为高甘油三酯血症患者,且均为LPL外显子5 Pro207→Leu错义突变.结论推测此突变影响了LPL分子的活性中心的形成,从而降低了催化活性,导致了高甘油三酯血症的发生.     

一例10q25.2→q26.1中间缺失病例

本文作者在一名新生女婴体内发现10号染色体中间缺失 del(10)(pter→q25::q26.1→qter)。先证者为第一胎,双亲无血缘关系,年龄均为20岁,双亲家族中均无先天畸形史。母亲怀孕期间仅第六周时有水痘感染,预产期之后五天引产出生一活女婴,体重2960克,呼吸能力弱,小头畸形,肌肉瘦弱,眼间距宽,鼻梁突起宽阔,上唇薄并呈     

人类胰高血糖素基因定位在2q36→37

胰高血糖素是一种含有29个氨基酸单链的多肽激素,产生于胰岛的α细胞。在哺乳     

一种新的β地中海贫血双重突变杂合体[—28（A→G）.CD17（A→T…

为研究不同民族β地中海贫血的基因突变，作者应用聚合酶链反应（ＰＣＲ）结合等位基因特异性寡核苷酸（ＡＳＯ）探针点杂交技术，对现居新疆的一个布依族家系的β地贫进行了基因分析，发现其中两名成员为－２８（Ａ→Ｇ）和ＣＤ１７（Ａ→Ｔ）的双重杂合体。结合家系调查表明，为同一染色体上的双重突变，文献中未见报道。这种基因的携带者表现为轻型β地中海贫血，从而为认识β地盆高度的异质性、为研究我国少数民族β地贫的基因背     

Distribution of C→T and T→C polymorphisms of the urokinase-type plasminogen activator gene in children with type 1 diabetes mellitus and insulin resistance

Abstract We analysed the distribution of genotypes and frequency of alleles of two polymorphisms in the urokinase-type plasminogen activator (uPA) gene: a CT substitution in exon 6 and a TC substitution in intron 7 in 89 children with type 1 diabetes mellitus and insulin resistance compared with 120 non-diabetic control subjects. All genotypes were determined by the allele-specific polymerase chain reaction. We found that the frequency of the T/T homozygote (15%) in the patient group was significantly (P<0.05) higher than in the controls (7%). There were no differences in the distribution of the TC polymorphism between patients and controls, which suggests that this genetic change is probably phenotypically silent. In conclusion, our results indicate that the higher percentage of T/T homozygotes in patients might be associated with T1DM coexisting with insulin resistance.     

Catalysis of NADH→NADP+ transhydrogenation by adult Hymenolepis diminuta mitochondria

Hymenolepis diminuta mitochondria catalyze nonenergy-linked and energy-linked NADH→NADP⁺ transhydrogenations, with the latter driven by electron-transport dependent NADH oxidation (electron transport-driven, ETD) or ATP hydrolysis (ATP-driven, ATPD). Using submitochondrial particles, NADH→NADP⁺ transhydrogenations were characterized further. ETD and ATPD reactions were enhanced by bovine serum albumin (BSA) and were inhibited by N,N′-dicyclohexylcarbodiimide (DCCD), carbonyl cyanide 3-chlorophenylhydrazone (CCCP), carbonyl cyanide 4-(trifluoromethoxy) phenylhydrazone (FCCP), and niclosamide. The nonenergy-linked reaction was unaffected by these additives. Except for DCCD inhibition of the ATPD reaction, BSA mitigated inhibitor effects on energy-linked activities. BSA enhanced NADH oxidase (but not ATPase) activity. Although DCCD inhibited NADH oxidase and ATPase, BSA only lessened oxidase inhibition. With protonophores, an increase in NADH oxidase (but not ATPase) activity was suggested. Oxidase inhibition by rotenone was unaffected by BSA. The ATP-hydrolyzed/NADPH-formed for the ATPD reaction was almost unity. A model for H. diminuta energy-linked transhydrogenation is presented.     

Response to therapy of a type III hyperlipoproteinemic subject with the rare apolipoprotein E1 (Gly127 → Asp,Arg158 → Cys) variant

Summary In a preceding paper, we described the molecular biological defects in a patient with a severe form of the familial lipoprotein disorder type III hyperlipoproteinemia (HLP) and an unusual apolipoprotein (apo) El phenotype and 1/null genotype. The index case was a 60-year-old white male of German ancestry who suffered from a myocardial infarction at age 50 years. He had distinctly elevated levels of plasma lipids (triglycerides 551 mg/dl and cholesterol 747 mg/dl, respectively) and typical clinical signs of this inborn error of lipoprotein metabolism. His mutant apo E1 was shown to be identical to a rare (already described) apo E1 (Gly₁₂₇Asp, Arg₁₅₈Cys) variant. A second independent defect at the molecular level was a nucleotide deletion of a guanosine (G) in the codon for amino acid 31 of the proband's apo 3 allele. This single base deletion (not described before) changed his apo 3 allele to a nonfunctional null allele devoid of a stable gene product. Here we describe the response to combined dietary and medical treatment of the patient with this unusual form of type III HLP. His response to therapy was excellent, similar to patients with classical type III HLP and homozygosity for apo E2. However, the correct diagnosis of this familial lipoprotein disorder seems to be necessary, even in patients without the expected apo E2/2 phenotype, in terms of the prompt and beneficial response to therapeutic interventions.Abbreviations Apo Apolipoprotein - Chol cholesterol - HDL high density lipoproteins - HDL-C HDL-cholesterol - HLP hyperlipoproteinemia - IDL intermediate density lipoproteins - IEF isoelectric focusing - LDL low density lipoproteins - LDL-C LDL-cholesterol - TG triglycerides - VLDL very low density lipoproteins - VLDL-C VLDL-cholesterol Dedicated to Prof. Dr. G. Schettler on the occasion of his 75th birthday on April 13, 1992     

一种新的β地中海贫血双重突变杂合体［－28（A→G）·CD17（A→T）／N］

为研究不同民族β地中海盆血（β地贫）的基因突变，作者应用聚合酶链反应（ＰＣＲ）结合等位基因特异性寡核苷酸（ＡＳＯ）探针点杂交技术，对现居新疆的一个布依族家系的β地贫进行了基因分析，发现其中两名成员为－２８（Ａ→Ｇ）和ＣＤ１７（Ａ→Ｔ）的双重杂合体。结合家系调查表明，为同一染色体上的双重突变，文献中未见报道。这种基因的携带者表现为轻型β地中海贫血。从而为认识β地贫高度的异质性、为研究我国少数民族β地贫的基因背景，积累了有意义的资料。     

dup（16）（q22→q11）一例

ｄｕｐ（１６）（ｑ２２→ｑ１１）一例郭英，万里，赵玉芳，游广发患儿女，６天，为第６胎第２产，胎龄３８周，剖腹娩出，生后有轻度窒息。父母表型正常，非近亲婚配，无遗传病家族史，其母孕期健康，未接受过放射线及化学药物。患儿出生时父母年龄分别为３８、３６岁。...