目的探讨一例赖氨酸尿性蛋白耐受不良(Lysinuric Protein Intolerance,LPI)患儿的临床及遗传学特点。方法回顾分析1例LPI患儿的临床特点,通过高通量测序对患儿家系进行基因检测。结果2岁2月,男性患儿,表现为异常哭闹,发育迟缓,身材矮小...目的探讨一例赖氨酸尿性蛋白耐受不良(Lysinuric Protein Intolerance,LPI)患儿的临床及遗传学特点。方法回顾分析1例LPI患儿的临床特点,通过高通量测序对患儿家系进行基因检测。结果2岁2月,男性患儿,表现为异常哭闹,发育迟缓,身材矮小,厌恶蛋白。高通量测序提示SLC7A7基因存在c.625+1G>A和c.225_c.226insAGGGTGTGCTCATATACAGTGCCTCCTTTGGTCTCTCTCTGGTCATC(p.W76Rfs*110)复合杂合变异,分别来自于表型正常的母亲和父亲,c.225_c.226insAGGGTGTGCTCATATACAGTGCCTCCTTTGGTCTCTCTCTGGTCATC(p.W76Rfs*110)为未报道过的变异。结论LPI临床缺乏特异性,厌恶蛋白是本病的一个明显特征,新位点变异扩展了SLC7A7基因变异谱,基因检测是确诊LPI的关键。展开更多
To obtain a new lysine rich protein gene, tomato tsb cDNA was synthesized from nearly matural anther mRNA by RT PCR. Sequence analysis indicated that the isolated fragment was composed of 748 bp, encoding a glutamic a...To obtain a new lysine rich protein gene, tomato tsb cDNA was synthesized from nearly matural anther mRNA by RT PCR. Sequence analysis indicated that the isolated fragment was composed of 748 bp, encoding a glutamic acid rich (22 55%) and lysine rich (14 89%) protein which was hydrophilic throughout and contained seven imperfect repeated motifs of sequence V V E K K N/E E. It had 70 22% homology to the sequence of SB 401 cDNA reported by Liu et al. The deduced amino acid sequence shares 69 96% identity with the reported gene. Southern blot analysis indicated that tsb was one copy in the tomato genome tsb expressed only in pollen.展开更多
采用农杆菌介导的方法将高赖氨酸蛋白基因导入台粳9号幼胚诱导的胚性愈伤组织中,经潮霉素筛选,抗性愈伤分化成苗,共获得2株转基因植株.对这些植株及后代植株进行GUS染色和PCR及PCR Southern b lot检测分析,确定高赖氨酸蛋白基因已整合...采用农杆菌介导的方法将高赖氨酸蛋白基因导入台粳9号幼胚诱导的胚性愈伤组织中,经潮霉素筛选,抗性愈伤分化成苗,共获得2株转基因植株.对这些植株及后代植株进行GUS染色和PCR及PCR Southern b lot检测分析,确定高赖氨酸蛋白基因已整合到台粳9号基因组中,并能稳定遗传表达.经检测,转基因水稻糙米赖氨酸含量为0.349%,比对照提高29.3%;转基因水稻秸秆赖氨酸含量为0.341%,比对照提高8.3%.展开更多
文摘目的探讨一例赖氨酸尿性蛋白耐受不良(Lysinuric Protein Intolerance,LPI)患儿的临床及遗传学特点。方法回顾分析1例LPI患儿的临床特点,通过高通量测序对患儿家系进行基因检测。结果2岁2月,男性患儿,表现为异常哭闹,发育迟缓,身材矮小,厌恶蛋白。高通量测序提示SLC7A7基因存在c.625+1G>A和c.225_c.226insAGGGTGTGCTCATATACAGTGCCTCCTTTGGTCTCTCTCTGGTCATC(p.W76Rfs*110)复合杂合变异,分别来自于表型正常的母亲和父亲,c.225_c.226insAGGGTGTGCTCATATACAGTGCCTCCTTTGGTCTCTCTCTGGTCATC(p.W76Rfs*110)为未报道过的变异。结论LPI临床缺乏特异性,厌恶蛋白是本病的一个明显特征,新位点变异扩展了SLC7A7基因变异谱,基因检测是确诊LPI的关键。
文摘To obtain a new lysine rich protein gene, tomato tsb cDNA was synthesized from nearly matural anther mRNA by RT PCR. Sequence analysis indicated that the isolated fragment was composed of 748 bp, encoding a glutamic acid rich (22 55%) and lysine rich (14 89%) protein which was hydrophilic throughout and contained seven imperfect repeated motifs of sequence V V E K K N/E E. It had 70 22% homology to the sequence of SB 401 cDNA reported by Liu et al. The deduced amino acid sequence shares 69 96% identity with the reported gene. Southern blot analysis indicated that tsb was one copy in the tomato genome tsb expressed only in pollen.
文摘采用农杆菌介导的方法将高赖氨酸蛋白基因导入台粳9号幼胚诱导的胚性愈伤组织中,经潮霉素筛选,抗性愈伤分化成苗,共获得2株转基因植株.对这些植株及后代植株进行GUS染色和PCR及PCR Southern b lot检测分析,确定高赖氨酸蛋白基因已整合到台粳9号基因组中,并能稳定遗传表达.经检测,转基因水稻糙米赖氨酸含量为0.349%,比对照提高29.3%;转基因水稻秸秆赖氨酸含量为0.341%,比对照提高8.3%.
