突变的

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。

It proved that yellow-mutant belongs to the type of absence of chlorophyll; etiolation had relation to the lack of chlorophyll.The biology characteristic of the yellow-mutant cultured in vitro was investigated. The results showed that the mutant behaved etiolation character in different temperature and illumination time condition.

在离体培养条件下，探讨了桑树黄化突变体的生物学特性，发现在不同温度及光照条件下均表现黄化特征，证明该突变体叶色黄化与否与温度变化无关，不属于温敏型或光敏型叶色突变体，但突变体的黄化程度受温度影响而有一定的变化。

The result showed that one mutant was unable to differentiate heterocyst, three formed heterocysts but still could not maintain normal growth, four growed slowly with heterocyst differentiation.

结果显示，有一个突变株不能分化异形胞；三个突变株可以形成异形胞，但在缺氮的条件下仍不能维持生长；4个突变株可以分化异形胞，但在缺氮条件下生长缓慢。

Results In 1921 parentage cases, seventy cases (3.644％) were found to have mutations. Among these were one case with double mutations (D21S11 and PentaD) and another case with two different mutations (D7S820 and D16S539) in two children.

结果在1921例确定亲权的案例中有70例(3.644％)观察到了突变，其中1例是两个位点同时突变(D21S11 and PentaD)、1例是2个子代不同位点发生突变(D7S820 and D16S539)。

The result of uroscopy of the proband was strong positive. There was a novel deletion mutation of c.876-877 del TC in the coding region of exon 6 of IDS gene, which was a hemizygous mutation. However, the mutation of his mother and sister was a heterozygous mutation. Detection of the exon 6 of IDS gene showed that the mutation was not found among normal controls and other patients with MPS I, IV, and VI other than MPS II. Homology comparison of amino acid sequences from different species showed that the phenylalanine glutamine of the mutation site of c.876-877 del TC located in p.292-293 was highly conserved. The activity of IDS enzyme of the proband was only 2.3 nmol/4 h/mL, which was much lower than normal; but the activity of IDS enzyme of his father, mother and sister was 641.9 nmol/4 h/mL, 95.8 nmol/4h/mL and 103.2 nmol/4h/mL, respectively.

结果显示：先证者尿检呈强阳性；其IDS基因exon 6编码区内存在c.876-877 del TC新缺失突变，为半合子突变，而其母、其姐为杂合突变；正常对照和其他非II型MPS患者的IDS基因exon 6的检测结果均未发现该突变；不同物种氨基酸序列的同源性比对显示： c.876-877 del TC突变所在的位置即p.292-293的苯丙氨酸谷氨酰胺高度保守；酶活性测定的结果显示：先证者的IDS酶活性仅为2.3 nmol/4 h/mL，大大低于正常值，而其父的为641.9 nmol/4 h/mL，其母的血浆酶活性为95.8 nmol/ 4h/mL，其姐的为103.2 nmol/4 h/mL。

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。

Lint yield of fiber mutant was lower since lint percentage or lint index was lower than normal-type cotton TM-1,some of other traits,such as higher seed index,better fiber quality.

纤维突变体的衣分和衣指均较低，这是突变体产量低的主要原因，但突变体籽指较TM-1高。突变体纤维的比强度较差，其他纤维品质指标相对较好。

The majority of keratin mutations are dominant acting and mostly involve mis-sense or small insertion/deletion mutations clustering at the ends of the rod domain of the keratin molecule.

目前报道的基因突变点集中在角蛋白1A螺旋起始区和2B螺旋末端的高度保守区，基因突变方式多数为错义突变，偶有小片段插入或缺失突变。

The results were as follows. In the insert mutation genotypes, there was significant difference between body weights of 2 weeks aged BB and AB genotype (P.05), while there was no significant difference between AA and other genotypes. In the mutation genotypes, there was no significant difference in body weight. Insert mutation loci had no significant effect on fossil bone length and shank length of 0-12 weeks aged chickens, only mutation loci had a significant effect on fossil bone length and shank length of 6 weeks aged chickens.

分析多态位点与0-12周龄鸡生长发育性状的关联性，结果表明：插入突变基因型中，2周龄鸡体重BB型与AB型差异显著(P.05)，但AA型与AB型和BB型差异均不显著，而突变各基因型间没有显著差异；插入突变位点对0-12周龄鸡的龙骨长、胫骨长均没有显著影响，而突变位点仅在鸡6周龄时表现出与龙骨长、胫骨长间的差异显著性。

In order to screen out suitable lines for seashores in the east of China,lines of Spartin patens induced by low energy heavy ion were grown at simulating seashore environment condition.Leaf length and width,stem height and diameter,biomass and some photosynthetic indexes were assayed.

为从狐米草低能重离子突变系中筛选出生物量大、光合能力强、并可在滩涂生长良好的牧草用突变系，在室外模拟沿海滩涂环境中种植狐米草，检测各突变系的叶长、叶宽、茎高、茎直径、地上部分生物量以及各突变系单位面积的光合能力等指标。

This one mode pays close attention to network credence foundation of the businessman very much.

这一模式非常关注商人的网络信用基础。

Cell morphology of bacterial ghost of Pasteurella multocida was observed by scanning electron microscopy and inactivation ratio was estimated by CFU analysi.

扫描电镜观察多杀性巴氏杆菌细菌幽灵和菌落形成单位评价遗传灭活率。