共查询到19条相似文献,搜索用时 93 毫秒
1.
目的对罕见的ABO亚型标本进行ABO血型鉴定及家系调查分析。方法采用血型血清学方法对家系标本进行ABO血型鉴定,同时采用PCR-SSP方法检测红细胞ABO血型基因及ABO cisAB与B(A)血型基因分型,并分析血型遗传规律。结果该家系调查发现2例血清学结果正反定型结果不符,均为血清学结果为正定型AB型,反定型B型,ABO基因型为B(A)04/O2型。结论对ABO血型血清学正反定型不符的标本,可以用家系调查和分子生物学方法进行辅助验证,并能阐述ABO血型弱表达现象的分子基础。 相似文献
2.
3.
4.
《临床检验杂志》2021,39(10)
目的对3例血清学定性为A_(weak)B亚型的血标本进行ABO基因检测,探讨其分子遗传学特点,并探讨B(A)亚型与CisAB、A亚B型的鉴别要点。方法用PCR-SSP对常规血清学方法定型困难的3例标本进行ABO基因分型,并对其ABO基因第6、7外显子扩增后进行直接测序及单倍型测序,确定其基因型。结果 3例标本血型血清学结果均为A_(weak)B型,存在不规则抗A抗体。基因分型均为B(A)04型,其B等位基因在第7外显子存在nt640AG突变,标本1为B(A)04/O02,标本2、3为B(A)04/O01。结论当血清学检测结果正反定型不一致时,应采用分子诊断技术进行辅助诊断,并采用配血相合输血策略,可确保临床输血安全。 相似文献
5.
6.
目的采用分子生物学方法进行疑难血型鉴定及其遗传发生机制分析,探究分子生物学在红细胞血型分型技术中的必要性和可行性。方法使用血清学和分子生物学方法,对1例二次献血时血型与首次记录不符且ABO正反定不符的献血者,进行血型鉴定。结果献血者血清学:与抗-A血清反应呈弱阳性(2+),与抗-B及抗-H血清反应均为强阳性(4+);与A1型红细胞呈弱阳性(2+),但与B和O型红细胞不反应;直接、间接抗球蛋白试验结果均为阴性、血清抗体筛查结果为阴性。献血者分子生物学:ABO基因第6、7外显子区存在9处变异,与A101等位基因进行比对,确定血型为B(A)02。结论分子生物学方法可以避免血清学疑难血型鉴定中的诸多影响因素,及时准确地鉴定B(A)亚型。 相似文献
7.
为了研究Bel亚型的血清学特征和遗传背景,采用红细胞凝集试验检测先证者及其家庭成员红细胞上的A、B、H抗原和血清中的抗A抗体、抗B抗体,用凝集抑制试验检测唾液中的A、B、H血型物质。结果表明:先证者与其母、女儿3人确定为Bel亚型;先证者的2个妹妹确定为ABel亚型;先证者的父亲、儿子和配偶分别为A、B和B型。结论:我国人群中Bel亚型是家族遗传。 相似文献
8.
10.
目的对1例血清学血型鉴定困难的患者进行基因鉴定,分析引起血型鉴定困难的原因及突变基因。方法采用微柱凝胶法和试管法进行血清学血型鉴定、抗球蛋白试验和抗体筛查,采用聚合酶链反应(PCR)扩增结合测序及PCR产物克隆的方法,分析该患者ABO基因第6、7外显子区及其侧翼序列,寻找变异位点。结果患者血清学血型鉴定正反结果不一致,其红细胞与单克隆抗A抗体反应呈弱阳性(++),与单克隆抗B及抗H抗体反应均为强阳性(++++);其血清与A1型红细胞呈现弱凝集,但不凝集B和O型红细胞;患者直接及间接抗球蛋白试验均为阴性、血清抗体筛查为阴性。经测序发现,患者ABO基因存在多个变异,其第6外显子区存在261del和c.297AG二处杂合变异,第7外显子区存在c.526CG、c.640AG、c.646TA、c.657CT、c.681GA、c.703GA、c.771CT、c.796CT、c.803GC、c.829GA、c.930GA共11处杂合变异,以A101等位基因为标准序列进行比较,对照Blood Group Antigen Gene Mutation Database进行ABO等位基因突变分析,判断患者血型为B(A)04/O06血型。结论患者的B变异的基因型及弱AB的表型是引起血型鉴定正反不一致的主要原因,DNA基因分型有助于解决疑难样本的血型鉴定。 相似文献
11.
背景:虽然国内与国外关于新等位基因的报道较多,但是,因某些等位基因首次发现较晚,而后却再次被检测到,并且等位基因频率很低,此类相关文章报道甚少,这些等位基因往往被忽视。目的:检测与确认4例临床移植配型供受者携带的罕见等位基因。方法:采用快速 DNA提取试剂盒从全血样本中提取基因组DNA,经人类白细胞抗原基因商品化测序分型试剂盒检测和SSP高分辨试剂盒验证,得到人类白细胞抗原高分辨分型结果。结果与结论:被检测到的4个罕见等位基因分别为B*27:15、B*51:39、C*07:66和C*08:22。对于以上4个等位基因虽被美国骨髓库列为罕见等位基因,但在中国可能并不罕见。事实证明,被美国骨髓库列为罕见等位基因的C*08:22为中国汉族人群常见等位基因。 相似文献
12.
目的探讨少见诺卡菌的鉴定方法及药物敏感性,提高对诺卡菌的认识。方法采用菌落形态、显微镜检查和质谱分析仪的方法鉴定菌株,采用微量肉汤稀释法检测药物敏感性。结果对该院近2年分离到的3例少见诺卡菌进行鉴定和药物敏感性试验,分别为皮疽诺卡菌、乔治教堂诺卡菌和豚鼠耳炎诺卡菌,其中皮疽诺卡菌对亚胺培南、莫西沙星、复方磺胺甲基异噁唑、环丙沙星、头孢曲松、阿莫西林/克拉维酸、米诺环素、利奈唑胺、阿米卡星9种抗菌药物均敏感;乔治教堂诺卡菌对环丙沙星和阿莫西林/克拉维酸耐药,对其余7种药物敏感;豚鼠耳炎诺卡菌对亚胺培南、头孢曲松和阿莫西林/克拉维酸耐药,对其余6种药物敏感。结论质谱仪有助于提高诺卡菌菌种的鉴定水平。诺卡菌属的抗菌药物敏感性因菌种不同而异,临床医生应结合药物敏感性试验结果指导临床治疗。 相似文献
13.
Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete analysis of two generations of a family with 3-ketothiolase deficiency.
下载免费PDF全文
![点击此处可从《The Journal of clinical investigation》网站下载免费的PDF全文](/ch/ext_images/free.gif)
T Fukao S Yamaguchi T Orii R B Schutgens T Osumi T Hashimoto 《The Journal of clinical investigation》1992,89(2):474-479
3-Ketothiolase deficiency (3KTD) stems from a deficiency of mitochondrial acetoacetyl-coenzyme A thiolase (T2). We analyzed the molecular basis of 3KTD in two generations of a family. A boy (patient 2, GK04), his father (patient 1, GK05), his mother, and his brother were studied; three mutant alleles of T2 gene were identified. Patient 1 is a compound heterozygote: one allele has a point mutation of G to A at position 547 on his T2 cDNA, causing Gly150 to Arg substitution of the mature T2 subunit, and the other allele has GT to TT transition at the 5' splice site of intron 8, causing exon 8's skipping of the T2 cDNA. Patient 2 is also a compound heterozygote: one allele inherited from his mother has AG to CG transition at the 3' splice site of intron 10, causing exon 11's skipping of the T2 cDNA, and the other allele derived from patient 1 has the G to A mutation (Gly to Arg). The brother of patient 2 is an obligatory carrier with the mutant allele causing the exon 8 skipping. This report seems to be the first complete molecular definition of 3KTD at the gene level. 相似文献
14.
目的探讨罕见豚鼠耳炎奴卡菌的鉴定方法并评价其药物敏感性。方法采用形态、生理生化表型鉴定与16S rRNA序列分析相结合的方法鉴定菌株,使用微量肉汤法检测其药物敏感性。结果临床分离的奴卡菌被鉴定为豚鼠耳炎奴卡菌,其对哌拉西林、红霉素、头孢他啶、头孢哌酮、庆大霉素、头孢西丁、哌拉西林/他唑巴坦耐药,万古霉素、左氧氟沙星、亚胺培南、依替沙星、环丙沙星、阿米卡星、复方磺胺甲基异噁唑敏感。结论 16SrRNA基因序列分析法可用以鉴定豚鼠耳炎奴卡菌,磺胺类药物治疗有效。 相似文献
15.
10个HLA新等位基因的测序确认 总被引:2,自引:0,他引:2
目的用DNA测序方法确认HLA新等位基因。方法对常规流式荧光微珠HLA分型方法无法给出确切结果的标本,采用序列特异性引物测序、单倍型测序、克隆测序等方法确认新的等位基因序列,将测得的序列与已知的最相近序列进行比对,可疑新等位基因序列提交GenBank进行注册,向WHOHLA因子命名委员会申报确认。结果2004年5月—2005年12月共进行常规检测12193人份,发现可疑标本21份,测序确认为新等位基因的有10份,申报确认为新的HLA等位基因,已经被正式命名。结论测序是确认HLA基因序列的金标准,但常规直接测序并不能解决全部问题,需要借助组序列特异性引物(GSSP)测序、单倍型测序、克隆测序等方法加以解决。 相似文献
16.
A B Lane T Jenkins 《Clinica chimica acta; international journal of clinical chemistry》1978,87(2):219-228
A family is described in which alleles for two different hexosaminidase beta-chain variants are segregating. When they co-exist in the same individual Sandhoff disease results. In the heterozygous state one of the variant alleles results in the production of an unstable Hex B and a Hex A with an altered Km for the substrate 4-MU-acetamido-2-deoxy-beta-D-galactopyranoside. The other allele when heterozygous with a normal allele does not produce unstable isozymes with altered kinetics. Like many rare recessive diseases the affected children in this family would appear to have been compound heterozygotes and not true homozygotes. 相似文献
17.
目的 对1例罕见α地贫基因进行鉴别并对其家庭遗传进行分析.方法 对家庭成员进行血常规和血红蛋白电泳分析,使用PCR-反向点杂交法(PCR-RDB)检测地中海贫血基因分型,使用一代测序(Sanger)鉴别基因罕见突变.结果 该家庭父亲携带--SEA地贫基因型,母亲携带罕见α地贫基因型IVS-Ⅱ-55(T->G)和IVS-... 相似文献
18.
目的确证在一例单亲亲权鉴定中所发现的在D21S11等位基因座出现稀有的分型标准物外等位基因。方法为了解该稀有的分型标准物外等位基因的确切分型、复合序列结构、及其最小等位基因频率,设计分子生物学实验,经过PCR,克隆测序显示该稀有等位基因是D21S11基因座的稀有等位基因32.3。结果对稀有等位基因32.3的结构和频率进行分析,测序分析显示拟父和孩子的D21S11基因座的等位基因32.3的核苷酸序列结构相同,复合序列为[TCTA]6[TCTG]5[TCTA]3TA[TCTA]3TCA[TCTA]2TCCATA[TCTA]11。结论稀有等位基因32.3频率较低,在亲权鉴定中会增加此基因座的拟然比率(父权指数),从而提高亲权鉴定的非排除结论的概率,在个体识别鉴定中具有重要的意义。 相似文献
19.
Le Maréchal C Guerry C Benech C Burlot L Cavelier B Porra V Delamaire M Férec C Chen JM 《Transfusion》2007,47(5):858-863
BACKGROUND: Unlike the standard RHD+ or RHD- alleles, serologic determination of weak or partial D alleles is often not clear-cut. Most importantly, rare weak D alleles, not typed by serology, are prone to alloimmunization when transfused with D+ blood. Although more than 100 RHD variants have currently been reported, many more rare alleles probably remain to be identified. STUDY DESIGN AND METHODS: To identify novel unusual RHD alleles, genomic DNA samples were collected from 333 blood donors or recipients in western France. All displayed ambiguity for D phenotype as determined by routinely used serologic reagents and analyzed by means of denaturing high-performance liquid chromatography (DHPLC) analysis in parallel with direct sequencing. RESULTS: For the first time it has been established that a reliable DHPLC-based approach potentiates the rapid screening of the entire RHD gene-coding sequence. In so doing, a total of 12 novel RHD alleles were identified. Except for the null allele that is in trans with a Weak D type 4 allele, the predicted effects of the other new alleles on gene expression correlated well with the discrepant routine D phenotype results. In particular, the carrier of the p.Leu214Phe missense mutation developed alloanti-D antibodies after transfusion of D+ blood. CONCLUSION: The identification of 12 novel RHD alleles represents a significant addition to the known repertoire of unusual RHD variants and, at the same time, serves to deepen our understanding of the molecular basis of weak and partial D. The accurate molecular typing of RHD alleles would allow to reduce the alloimmunization risk. 相似文献