杂合性

①Location of WD gene in Ch inese: Using pairwise linkage analysis and multipoint linkage analysis method, w e constructed a genetic map of DNA markers within D13q14.2-3 which refined the location of WD gene by restriction fragment length polymorphism and microsatellite polymorphism analysis;②Screen for mutations of WD gene in Chinese people: we detected the structure of 21 exons of WD ge ne in 45 patients from 39 pedigrees by PCR-SSCP(Single strand conformation poly morphism) and PCR-DNA sequencing technology, found a new mutation in exon 5 and nuclcotide sequence analysis showed it is a T insertion. We also conformed the Arg778Leu in exon 8, the highest frequence mutation point in Chinese people, wit h mutation rate 22.8%in total;③Carrier detection and presymptomatic diagnosi s of WD: Based on DNA recombination technology, we peformed successfully the gen e diagnosis in all individuals of 79 families with WD and built up a helpful spe cific enzyme cut method (PCR-Msp1) to detect the carrier and presympomatic patients in Chinese pe ople with WD.

①WD的基因定位研究：通过RFLP及微卫星多态性分析，应用两位点及多位点连锁软件，建立了中国人WD基因在D13q14.2-3区域的精细遗传连锁图谱，从而首次对中国人WD基因进行了精确定位；②WD基因突变研究：应用PCR-SSCP及DNA测序技术，对39个家系45名WD患者进行该致病基因的21个外显子突变筛选，发现WD基因5号外显子存在新的T插入突变，并证实中国人WD基因的突变热点为8号外显子，突变形式为Arg778Leu，其频率为22.8%；③WD的症状前诊断和杂合子检出：应用DNA重组技术对79个家系进行基因诊断，成功地进行了WD的症状前诊断和杂合子检出，并建立了WD的基因筛选的PCR-Msp 1酶切方法。

The genetic variations and polymorphisms of six microsatellite loci were analyzed to determine the population structure and breeding progress of BMY and Brahman cattle. The range of polymorphic information content of six loci was 0.524～0.752. The unbiased expected and observed heterozygosity were similar and were 0.7376 and 0.7396,0.6412 and 0.6537 for BMY and Brahman cattle, respectively. The expected heterozygosity was relatively high in the second generation of BMY in inter se breeding, which was congruent with the breeding progress.

对6个牛微卫星座位的遗传变异及多态性分析，以期了解BMY牛和婆罗门牛的群体遗传结构与育成情况。6个微卫星座位的多态信息含量为在0.524～0.752间，BMY牛、婆罗门牛两个群体的平均期望杂合度和观察杂合度值接近，分别为0.737 6和0.739 6，0.641 2和0.653 7，进入横交固定第二世代的BMY牛期望杂合度值较高，这与我们的育种进展相符。

The relationship between the genetic deficiencies and hemorrhagic disorder were characterized. The homozygosity of the Thr359Met in the propositus with FⅦ: C activity 2% was related to severe clinical symptoms; The proband with double heterozygous lesions of Arg152Leu and one single nucleotide deletion at position 11487-9, combined with Arg304Trp in exon 8 with FⅦ activity 1% suffered severe clinical bleeding tendency. one proband with double heterozygous mutations (Agr304Trp and Arg304Gln) with 10% of FⅦ activities characterized asymptom. the heterozygous mutations (Thr359Met, Arg152Gln,-55C→T) with FⅦ: C 1%～5. 5% showed moderate or mild clinical symptoms.

其中8961 G＞T（Arg152Leu）和10966-8delC两种突变为国际首次报道，IFSla+5g＞a突变导致的异常剪接为国际首次报道。1个F7及F10基因联合缺陷家系，其中，F10基因28139 G＞T（Val384Phe）突变为国际首次报道；发现了1个由F7及组织因子(tissue factor，TF)两种基因联合缺陷导致的出血家系，其突变分别为F7基因启动子区-55C＞T杂合突变；TF 9363 C＞T（Arg131Trp）杂合多态性（频率2.63％）。6种F7基因突变发生在催化区；2种突变发生在裂解位点；1种发生在启动子区；1种突变发生在剪接位点，除一种缺失突变外，其余均为点突变；所有家系的基因突变都来自先证者的父亲和/或母亲。

When the two alleles are not identical, they are said to be heterozygous.

当两个等位基因不同时，称之为杂合性的。

Objective To evaluate the applicability of partial loss of heterozygous criteria in tumor tissues with Identifiler system.

目的 对肿瘤组织中部分杂合性丢失(partial loss of heterozygous， pLOH)的判定标准在Identifiler系统中的适用性进行评估。

Objective: To explore the relationship between the genetic instability of microsatellite and the evolution of chronic myelogenous leukemia.

研究表明，许多肿瘤的发生和发展与微卫星DNAs的遗传不稳定性即基因组微卫星的不稳定性和染色体等位基因微卫星序列的杂合性缺失有关［1］。

Immunohistochemical S-P technique was performed to detect the expression of Fez1 protein in the tumor tissues and accompanying nonmalignant tissues.

实验分为三部分：(1)选取与候选抑癌基因Fez1紧密连锁的微卫星多态位点D8S261和D8S233，然后对32例肺腺癌组织进行两个位点的杂合性缺失分析。

In chronic lymphocytic leukemia there is high frequency of loss of heterozygosity and mutation of atm gene, which related to pathopoiesis and progression of CLL.

慢性淋巴细胞白血病可出现高频率的atm基因杂合性缺失和核苷酸突变，并与其发病及侵袭性病程有关。

RUNX3 has been recognized as a putative tumor suppressor gene in human gastric cancer. Loss of RUNX3 expression through high frequency hemizygous deletion and hypermethylation was found in 25-75％of gastric, colorectal and hepatocellular cancers.

从比较基因组学研究来看，食管鳞癌存在1p36.1位点的高频率杂合性缺失，由于RUNX3基因正好位于1p36.1位点，因此食管鳞癌的发生发展很可能涉及到RUNX3基因的表达改变。

Methods Four probands from four unrelated families with typical manifestations of CADASIL were studied The 1～12 coding exons and their flanking intron sequences of NOTCH3 gene were amplified by PCR and sequenced Some family members in the pedigree 2 and 4 were also examined for the NOTCH3 gene mutations Results Four hete...

结果 4个家系中的先证者均发现有NOTCH3基因的杂合性错义突变，先证者 1为外显子 3的 2 6 8C→T突变，先证者 2为外显子 3的 32 2C→T突变，先证者 3为外显子 3的 32 8C→T突变，先证者 4为外显子 11的 1819C→T突变，分别造成Notch3蛋白质R90C、C10 8R、R110C和R6 0 7C 4个位点氨基酸的替换。

According to the clear water experiment, aeration performance of the new equipment is good with high total oxygen transfer coefficient and oxygen utilization ratio.

曝气设备的动力效率在叶轮转速为120rpm～150rpm时取得最大值，此时氧利用率和充氧能力也具有较高值。

The environmental stability of that world - including its crushing pressures and icy darkness - means that some of its most famous inhabitants have survived for eons as evolutionary throwbacks, their bodies undergoing little change.

稳定的海底环境─包括能把人压扁的压力和冰冷的黑暗─意谓海底某些最知名的栖居生物已以演化返祖的样态活了万世，形体几无变化。