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Methods PCR-restrictive fragment length polymorphism was used to examine the SNP of rs1473109 of HIRA in 216 Han core family trios of schizophrenia.Data was analyzed using family based linkage disequilibrium.

在216个汉族精神分裂症核心家系中,以PCR和限制性片段长度多态方法对HIRA基因rs1473109 SNP进行检测,应用基于家系的连锁不平衡方法分析基因型数据。

The differentiation coefficient is 0.07 between three inbreed families respectively. The highest level of genetic homozygosity is in families Ⅱ at 18, but genetic variation is a little difference between inbreeding pig and mice. However, this study revealed the pattern of genetic variation at microsatellite loci in the 3 inbred families of WZSP with one of the most important findings to be the high level of unexpected heterozygosity at some loci, e.g. Sw874 and Sw936 that could be part of the unique genetics of three families. A hypothesis is that certain functional genes linked with such microsatellite loci may be involved in the maintenance of viability of these inbred families of WZSP remains for further investigation.

随近交代数的推进,每个星座上等位基因数越来越少,基因的纯合度越来越高,但WZSP近交系微卫星等位基因的纯合度有一定的限度,与近交鼠有所不同;在近交系3个家系各个世代中有少数几个基因座,如Sw874和Sw936等一直处于高度杂合状态,这可能与WZSP近交家系的种质特异性有关,推测与这些基因座处于同一连锁群的某些功能基因在维持极高近交水平下WZSP的基本生存能力中起着关键作用。3个近交群体间的分化系数在0.07以上,已各自成为独立家系;3个家系的近交程度不完全一致,基因的纯合度亦不同,Ⅱ系最高、14个微卫星座中7个纯合,其次为Ⅰ系和Ⅲ系。

In this family,deafness is maternally inherited and all the sufferers have the mitochondrial DNA 12s RNA A1555G mutation. Four methods are used in the experiments for establishing immortal lymphoblastoid cell lines of the family with non-syndromic deafness.

该家系患者呈典型的母系遗传特征,且研究发现患者中均具有线粒体DNA 12s RNA A1555G突变,是迄今世界上最大的非综合征耳聋家系之一,在该家系的建系过程中使用了4种不同的方法。

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。

Classifying by genetic distance, we selected 5 greatly fastgrowing families and 10 less fastgrowing families, compared with Slash pine, whose genetic gains of volume are 44% and 14% respectively, and with Mason pine , whose genetic gains of volume are 197% and 14% respectively.

家系的遗传距离进行了聚类分析,确定了5个极速生家系、8个较速生家系,其材积增益与湿地松相比分别为44%和14%,与马尾松相比分别为197%和136%。

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。

Objective: Presymptomatic gene diagnosis of autosomal dominant polycystic kidney disease families by PCR Methods: Genomic DNA were extracted Highly polymorphic microsatellite markers(SM7, AG2 5, KG8, CW2) linked to the PKD1were amplified using PCR Ten ADPKD families (104 members,including 28 affected) were analysed Results: Nine children were diagnosed with presymptomatic gene diagnosis ,although all children presented a negative ultrasonic diagnosis Conclusion: The presymptomatic gene diagnosis ...

目的:应用PCR方法对常染色体显性遗传性多囊肾病家系进行症前基因诊断。方法:用PCR扩增与PKD1位点连锁的的高度多态性的微小卫星体DNA(SM7,AC2.5,KG8,CW2)为遗传标记,对10个ADPKD家系的104个成员(包括28个患者)找出染色体上与疾病连锁的单体型,进行连锁分析。结果:对9个无临床症状,且B超检查呈阴性结果的儿童做出了症前基因诊断。结论:能够应用PCR方法对ADP-KD家系成员快速、准确地做出基因诊断

Results Among the 38 pedigree charts, 44.7 percent of the diabetics had the background of family tree and 25 symptoms were listed out which were illustrated by a typical pedigree chart. The difference between the total score of kidney-deficiency syndrome with and without family tress is statistically significant (P.05). The total score of four-diagnoses showed a linear correlation with the kidney-deficiency and the regression equation was =

结果在38幅家系图中,有家系背景者占44.7%,进一步举出25项单个症状,及典型家系图加以说明之;无家系背景的肾虚总分和有家系的肾虚总分具有统计学差异(P.05);四诊总分和肾虚总分呈线性相关,回归方程为=

The variation coefficients of most traits are greater in half-sib families than that in clones except for several branch traits.The average height of clones is nearly two meters higher than that of half-sib families, and the average volume of clones is 1.16 times about that of half-brethren families.

除枝下高、侧枝粗、分枝角、冠幅等几个分枝性状在无性系间的变异系数大于在半同胞家系间的变异系数外,其余性状均小于在半同胞家系间的变异系数。20个无性系的总平均树高、胸径和材积高于18个半同胞家系的平均值,其中,树高和材积显然高于半同胞家系的树高和材积,平均树高高出近2米,平均材积高出16.1%。

Applied with test of potted plant and measurement absorbency for study response of the contents of photosynthetic pigments of slash pine's half-sib under water stress. There are 7 families comparison with general slash pine. The contents of photosynthetic pigments are mensurated under feebleness water stress while soil water content is 55% to 60% and moderate water stress while soil water content is 35% to 40% and heavy water stress while soil water content is 20% to 25%. The test result indicate that either water grads or families of chlorophyll and chlorophyll a and chlorophyll b and Chla/Chlb and carotenoid and Caro/Chl are mighty notable difference. The Chl and Chla and Chlb and Chla/Chlb little drop from normal soil water to initial water stress. Then drop obvious with increased water stress. The Caro and Caro/Chl little drop firstly from normal soil water to initial water stress,then up in metaphase water stress,after drop in evening water stress. The Chl and Chla and Chlb and Chla/Chlb and Caro of slash pine'half-sib are over general slash pine. The Chl and Chla and Chlb and Chla/Chlb and Caro of 464 and 1027 are over average value of slash pine's half-sib under water stress. The Caro/Chl of 609 and 46 are over average value of slash pine's half-sib under water stress.

为研究湿地松半同胞家系光合色素对水分逆境的响应,采用盆栽试验和吸光度测定方法,以湿地松普通种子为对照,测定了七个湿地松优良半同胞家系在弱度水分胁迫(土壤相对含水量为55%~60%)、中度水分胁迫(土壤相对含水量为35%~40%)和强度水分胁迫(土壤相对含水量为20%~25%)条件下的光合色素,对湿地松优良半同胞家系在不同水分胁迫条件下的光合色素进行了研究,结果表明:无论是不同水分梯度还是不同家系水平,Chl、Chla、Chlb、Chla/Chlb、Caro、Caro/Chl均有极显著差异;从正常水分至水分胁迫初期Chl、Chla、Chlb、Chla/Chlb稍微下降,后随着水分胁迫程度的加深下降较快,从正常水分至水分胁迫初期Caro、Caro/Chl先稍微下降,胁迫中期上升,胁迫后期下降;所有半同胞家系的Chl、Chla、Chlb、Chla/Chlb、Caro高于普通种,在水分胁迫条件下家系464、1027的Chl、Chla、Chlb、Chla/Chlb、Caro高于家系的平均水平,家系609、46的Caro/Chl值高于家系的平均水平。

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