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These receptors can be further diversified somatically by mutations and gene conversion.

这些在体细胞组合好的受体基因可能再因突变或转换而有更多变化。

FINDINGS: Somatically acquired JAK2 mutations were identified in 16 (18%) patients with Down's syndrome-associated acute lymphoblastic leukaemia.

结果：唐氏综合征相关的急性淋巴母细胞白血病患者中有16例（18％）鉴定出了获得性体细胞JAK2突变。

Although tau deposits are found in neurofibrillary plaques and tangles in Alzheimer's disease but not in late-onset PD, tau mutations on chromosome 17 are linked to frontotemporal dementia with PD (FTPD-17) and to progressive supranuclear palsy, which are both neurodegenerative movement disorders like PD.

尽管tau沈淀物在阿默海滋氏症的神经纤维性斑块和团块中被发现，但是在迟发性帕金森氏症中没有发现。位於17号染色体上的tau基因突变与伴有震颤麻痹的额颞性痴呆以及进行性核上性麻痹有关，这两种疾病同帕金森氏症一样，都属於神经变性运动失调的疾病。

Objective The GJB2, GJB6 and GJB3 genes are related to hereditary deafness and keratoderma. To investigate the genetic causes, we recruited a Chinese family and screened the proband with syndromic deafness and palmoplantar keratoderma for mutations in these three genes and analyzed the phenotype and hereditary traits.

目的 GJB2、GJB6、 GJB3基因与遗传性耳聋及角化病有关，以GJB2、 GJB6、 GJB3基因为候选基因，研究1例伴有掌跖角化病的综合征型耳聋先证者的分子病因，探讨其表型及遗传特征。

A set of spectific primers was syn thesized according to HBV DNA sequence of Chinese strain, the whole X region was amplified by PCR method from the serum of 9 patients with chronic HBV infection , and then the PCR products were subcloned into pGEM Teasy vectors. Clones were randomly selected to be sequenced. Comparison of the cloned sequence was made to find the difference. After being compared, each sequence of selected clones is o f difference. The point mutation scattered through X region. Deletion mutations were detected in 19 clones of 37(51.4%), which caused different carboxyl endings of X protein. There is a hot region (after 123 aa code) where deletion mutation frequently happens.

以中国株HBV基因序列为依据，设计特异性多聚酶链反应引物，自9例慢性HBV感染患者血清中扩增HBV X基因，克隆入pGEM Teasy质粒，随机挑选克隆进行D NA测序以确定病毒的变异程度。37例测序结果提示来源于不同患者HBV X基因序列高度保守，但每个序列均不一致。X区除了存在广泛的碱基点替换突变外，序列的缺失突变占测序克隆总数的51.4％（19／37）；氨基酸缺失及移框突变多发生于123位氨基酸残基之后，可导致X蛋白多种羧基端形式。

Possibly: Mutations that impair RNA silencing in Caenorhabditis elegans result in the mobilization of transposable elements.

可能是：突变，损害RNA沉默在秀丽新杆线虫，结果在动员的转座因子。

The main transfer forms of transition and transversion mutations are Hm→Hm and Hm→Ht respectively.

碱基转换的主要转换形式为Hm→Hm，碱基颠换则以Hm→Ht。

It proved that the mutations are generally the transformation or transversion but not the insertion or deletion.

本研究得出的初步结论或推论如下： 1）经过亚硝基胍和PCR诱变法获得的一系列突变体在核苷酸基础上只发生了点突变，由此导致其蛋白质的序列也只是发生了个别氨基酸的突变。

Objective: To identify mutations in exon 16,18 of the gene CYLD1 in a Chinese family with multiple familial trichoepithelioma in Shandong Province.

目的：收集山东一多发性家族性毛发上皮瘤家系，通过直接测序法检测该家系圆柱瘤病肿瘤抑制基因(cylindromatosis tumor-suppressor gene，CYLD1)第16、18号外显子是否存在突变。

It is caused by mutations in dyskerin-encoding genes, telomerase-encoding RNA component genes and reverse transcriptase genes, as well as other uncharacterized genes. There are three inherited forms, including X-linked, autosomal dominant and autosomal recessive inheritance.

先天性角化不良是与编码角化不良蛋白基因、编码端粒酶的RNA组份基因、编码端粒酶的逆转录酶基因突变及其他未确认的致病基因突变引起的基因病，其遗传方式有：X-性联隐性遗传、常染色体显性遗传及常染色体隐性遗传。

But we don't care about Battlegrounds.

但我们并不在乎沙场中的显露。

Ah! don't mention it, the butcher's shop is a horror.

啊！不用提了。提到肉，真是糟透了。