家系

After analysis of the patients family relationship maps,we found that in the two kinds of patients families the higher blood SOD activity was a character inherited in autosome dominant typ...

从家系图分析等看出，这两种患者家系中血SOD升高以常染色体显性遗传方式进行遗传。也讨论了在优生优育遗传咨询中的应用价值。

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。

Methods Study subjects are all Chinese including 16 infants with sporadic congenital deaf-mutism, 39 patients with autosomal recessive hereditary hearing loss, 30 patients with autosomal dominant hereditary hearing loss and 100 normal adults.

收集中国散发先天性聋哑儿童16例，常染色体隐性遗传性聋39例(39个家系)，10岁前开始听力下降的常染色体显性遗传性聋30例(30个家系)和健康对照组100例。

RESULTS: These familial keloids mainly occurred during adolescence, showing the equal chance of being affected between male and female subjects. The affected person could be heterozygous, and a child of an affected parent had a 50% chance of being affected. Thirteen subjects displayed familiar keloid, 1 suspected keloid, 2 did not present keloid as obligate carriers, and 1 did not present keloid as doubtful carrier. One pedigree displayed keloid in 3 generations, two displayed in 2 generations. The traits of familial keloids were transmitted interruptedly, revealing incomplete penetrance. The clinical phenotypes of familial keloids presented variable expression among the different affected.

结果：这些瘢痕疙瘩家系以青春期发病为主，男女患病的机会均等；杂合体即可发病，双亲之一发病其半数子女可能发病；3个瘢痕疙瘩家系发病13人，可疑发病1人，2个未发病肯定携带者，1个未发病可疑携带者；3代发病家系1个，2代发病家系2个；瘢痕疙瘩性状存在间断传递、外显不完全现象；临床表型存在个体差异。

Huntington's disease known as inherited chronic chorea is an autosomal dominant disorder. After collection of a large HD pedigree from HuBei, the molecular diagnosis of the patients, the pre-symptomatic diagnosis of the persons on risk and the genetic analysis of this pedigree are performed so that the pathogene of this family can be confirmed.

目的：采集湖北省宜昌市秭归县一大Huntington舞蹈病家系，对患者进行基因诊断，对有发病可能性的成员进行预测，同时对该家系进行遗传学分析，验证该家系是否符合Huntington舞蹈病的病因。

The carboxylation efficiency on May of 1 and 2 year needle of slash pine's half-sib was the lowest while the carboxylation efficiency on August to September of 1 and 2 year needle of slash pine's half-sib was the highest.

使用LI-6400便携式光合测定系统，研究了湿地松优良半同胞家系的光和CO2响应情况，结果表明：不同湿地松半同胞家系光响应曲线、CO2响应曲线的特征参数在家系品种间有极显著差异。

At this time, old stirp dies out, its property being divided by the newborn strips.

这时，老的家系消亡了，老家系的财产被新家系分割。

2The involvement of MFT in woman is more than that in man.(3)The patients showed multiple dome-shaped, skin-colored, firm papules on the face. Some patients also present the lesions on the scalp and neck. No lesion showed the malignant tendency.(4) The histologic findings of MFT are cornified cysts and some nests of basaloid epithelial cells.(5)There were variable clinical expressions in different patients of the same family.(6) Some pedigrees were also affected by feckle or symmetrical progressive erythrokeratoderma, which were not found in MFT patients of other origin.

MFT临床分析总结：①MFT遗传方式为常染色体显性遗传；②女性发病多于男性；③中国汉族人MFT的典型皮损特征为面部乳白色半球形或圆锥形丘疹，质地坚实，只有2个家系皮损分别发生于头皮及颈部，均无恶化倾向；④组织病理特征为角质囊肿和由基底样瘤细胞构成的肿瘤岛；④同一家系中不同的患者表现度不同；⑤个别家系可伴发雀斑及进行性对称性红斑角化症，其它家系不伴发其他疾病。

The results showed that the respiration rate of J1Jm (Japan♀×Japan♂) and C1Jm (China♀×Japan♂) increased with increase in water temperature, but significantly decreased at over 18℃. The respiration rate in "Chinese red" and its half-sib families (C1Rh, J7Rh, RjRh) sharply decreased at 21℃, indicating that the "Chinese red" and its half-sib families adopted higher temperature. The changes in NH4-N excretion rate showed a similar tendency to the respiration during the experiment.

结果表明：J1Jm（皱纹盘鲍日本群体♀×日本群体♂）和C1Jm（皱纹盘鲍中国群体♀×日本群体♂）的耗氧率随水温的升高而上升，但超过18℃在21℃下耗氧率明显下降，RwRh与其半同胞家系(C1Rh、J7Rh、RjRh)的耗氧率拐点出现在21℃，说明&中国红&及其半同胞家系更适宜较高温度；各家系排氨率随温度升高的变化趋势与耗氧率基本相同。

As PTDT does in threshold traits, PTDT is valid not only for different QTL effect level, but also for maker with multiple alleles and multiple tightly linked markers.(2) Under an appropriate selection ratio s (in this study, s is 0.2, 0.4, 0.6, 0.8, respectively), the power of PTDT can be improved and the genotying individuals can be decreased using selective genotyping design. However, the power of PTDT is related with population size and population structure, an appropriate selection ratio can be defined by simulation based on the existing data.(3) Among the three transforming methods, mixed-family selection is the best, full-sib selection has same power to mixed-family selection in many parameter combinations, and Estimated Breeding Value selection is inferior to them.

数量性状QTL定位的模拟研究结果表明：(1)数量性状经有效转化后，PTDT对数量性状QTL定位保持了阈性状QTL定位的稳健与高效，对不同效应大小的QTL(10％，30％，50％)PTDT都是一个有效的分析方法；(2)在多等位基因标记、多标记方面，PTDT的检验功效与阐性状分析时一样高效；(3)在合适的选择率下(本研究的分别为0.2，0.4，0.6，0.8，1.0)，选择性基因型测定不仅可以减少基因型测定的数量，而且可以提高PTDT的检验功效，但选择性基因型测定的PTDT检验功效很大程度上与群体大小和结构有关，这个可根据具体情况通过模拟找到一个合适的选择率；(4)三种转化方法的转化效力结果表明，家系内混合家系选择的转化效力最高，家系内全同胞选择次之，估计育种值选择的转化效力较差。

Objective To investigate the effects of interleukin-1 β converting enzyme gene on the biologic characteristics of ovarian cancer cells.

目的 探讨白细胞介素-1 β转换酶的表达，对卵巢癌细胞生物学特性的影响。

Campylobacter: This illness is the most commonly identified cause of diarrheal illness in the world.

弯曲：这种病是最常见的原因查明腹泻病，在世界上。