杂合子

27例杂合子AML患者均为单克隆性造血。

All heterozygote AML were clonal hematopoiesis .

和琼脂糖凝胶检测方法相比，8例杂合子样本的酶联免疫检测结果，其阳性和阴性信号的对比结果更为明显，表明ELISA显色具有更高的灵敏度，同时可实现更大的通量。

The result of ELISA detection for eight heterozygote sample had more obvious comparision of positive and negative signal compared to the result of agarose gel electrophoresis .

检出B位点等位基因总数47个，单一位点3例，杂合子22例。

, 47 alleles were detected in locus B , 3 were single and 22 were of heterozygosis .

采用血液淋巴细胞大量制备了猪氟烷基因杂合子模板DNA。

The Hal gene heterozygotes template DNA in pigs was prepared from blood lymphocytes in large quantities .

结果118例健康献血员中，14例为T／C杂合子，104例为T／T纯合子。

Results Among the 118 individuals , 14 subjects were heterozygous and 104 homozygous for the T / T allele .

患儿母亲为X染色体突变基因杂合子携带者。

The patient ′ s mother was the carrier of the heterozygosis mutation in X-chromosome .

含有载体的DNA以及插入的外源基因的杂合子，被引入细菌细胞，并且在其中增殖。

The chimaeric molecule , containing the vector DNA and inserted foreign DNA , is introduced into bacterial cells where it multiplies .

杂合子样品经过PCR变性、复性之后，其组分包含四种双链分子：两种同源双链、两种异源双链。

A heterozygous sample after denaturation , renaturation of PCR , contains four duplexes : two homoduplexes and two heteroduplexes .

在上述三种民族人群中均未发现FⅧ基因内含子22二核苷酸重复序列的杂合子。

Heterozygotes of intron 22 ( CA ) repeat within F ⅷ gene were not found in the three populations .

HLAB纯合子血清学分型错误率也明显高于杂合子（P0005）；

Error rate of HLA B serological typing in the homozygotes was also higher than in the heterozygotes ( P0 005 );

结果测序显示两名患者存在FGFR3跨膜区1138位核苷酸GA的转换突变，且均为杂合子。

Results Two patients with ACH in this family showed G-A transition mutation at nucleotide 1138 as heterozygotes .

在我国毛难族中发现的1例HbNewYork复合HbE双重杂合子

A Case of Abnormal Hemoglobin Doubly Heterozygous for Hb New York and HbE Found in Maonan Ethnic Group in China

表现为该位点2个不同等位基因的杂合子，PCR电泳结果显示2条带，DNA定量结果接近2：1；

The electrophoretic results showed 2 bands and the quantitative result was approximately 2: 1.In Type Three , a homozygote of one allelic gene was detected .

再从30种不明确杂合子类型中各挑2个样品进行克隆测序，结果与SSP分型结果比较。

The typing results were compared with the sequencing of clone .

女性作为X染色体的杂合子在人类的健康与疾病中及重要作用，并可避免X连锁遗产性疾病在女性中发生。

Female mosaicism of the X chromosome has major implications for human health and disease and is the leading cause of female protection from X-linked genetic disorders .

以VNTR作为多态标记检测人类白血病p53基因杂合子性缺失

Detection of loss of heterozygosity of p53 gene by VNTR polymorphism analysis in human leukemia

6个SNP位点的杂合子覆盖率达到92.9%。

Heterozygote coverage of 92.9 % was achieved by using a panel of six SNPs on the chromosome 21 .

结论：exon18是中国人WD基因突变热点之一，大多数WD患者为复合杂合子；

Conclusion : Exon 18 might be one of hot points of mutation in chinese WD gene .

目的：探讨Wilson病及其杂合子的脑电图改变与临床的关系。

Objectives : To study the relationship between the clinical signs and the EEG findings in patients with Wilson ` s disease and their heterozygous relatives .

苯丙酮尿症杂合子高危人群基因型与生化表型相关性济南市高苯丙氨酸血症发病率调查及其临床表型、生化表型与治疗效果和脑部MRI特征的关系

Genotype and Phenotype Study in the Population of High Risk Phenylketonuria Heterozygotes The Neonatal Screening of Hyperphenylalaninemia in Jinan District & the Relation of HPA 's Clinic and Biochemical Characteristic with Therapertic Effect and MRI

Wilson病及杂合子脑电图改变均以弥漫性慢波化、阵发性慢活动和癫痫样放电等为主要表现。

The main changes of EEG in Wilson 's disease group and heterozygous group were slow-down of the basic rhythm , paroxysmal slow activities and epileptiform discharges , etc.

结论：所检测的PCR引物对之间的扩增效率一致，可用于比较分析mbr+/mbr-Nalm-6杂合子细胞系中两个等位基因表达活性。

Conclusion : Amplification efficiency of primers in real-time PCR reactions is identical . These primers can be used for quantity analysis of transcription activity of two BCL2 alleles in mbr + / mbr-Nalm-6 heterozygous cell line .

结果每个SNP纯合子为单一产物峰，杂合子则为长度不同的两个产物峰。

Results For the same SNP locus , the homozygote showed a single product peak , and the heterozygote showed two product peaks with different length .

G6PD比值法检测葡萄糖-6-磷酸脱氢酶基因突变女性杂合子影响因素的研究

A study on the influential factors of G6PD / 6PGD specific value assay in the heterozygotes of G6PD gene variants in female patients

目的建立快速、准确、有效的Wilson病（Wilsondisease，WD）患者早期诊断及杂合子检测的基因诊断技术。

Objective To develop a rapid , exact and effective technique of gene diagnosis for the early diagnosis of patients with Wilson 's disease ( WD ) and detection of WD heterozygotes .

结果找到了1例无症状期WD患者，5例杂合子。

The frequency of Wd is 1 5 . 5 % . Results One asymptomatic WD patient and 5 heterozygotes were detected .

HLD杂合子的血清铜蓝蛋白和血清铜的测定结果与健康人也有显著差异。

There were also significant statistical differences between HLD heterozygotes and healthy persons in the concentrations of ceruloplasmin and serum copper .

Werner综合征的一个新的复合杂合子突变导致WRN转录下降

A novel compound heterozygous mutation in Werner syndrome results in WRN transcript decay

β地中海贫血杂合子基因突变及Gγ珠蛋白基因-158位点SNP与HbF的关系

β - thalassemia mutations and single nucleotide polymorphism at - 158 of G γ - globin gene associated with altered levels of Hb F in β - thalassemia heterozygotes

其父具有与患者相同的异常血红蛋白为HbE杂合子。

The patient 's father also contained the same abnormal hemoglobin , being a heterozygote of hemoglobin E ( HbE )