目的探讨1例全面发育迟滞伴智力障碍患儿的遗传学病因。方法采用染色体G显带核型分析、拷贝数变异测序(copy number variation sequencing,CNV-seq)以及染色体高分辨技术对患儿及其父母进行变异筛查,并明确其亲代来源。结果患儿及其父...目的探讨1例全面发育迟滞伴智力障碍患儿的遗传学病因。方法采用染色体G显带核型分析、拷贝数变异测序(copy number variation sequencing,CNV-seq)以及染色体高分辨技术对患儿及其父母进行变异筛查,并明确其亲代来源。结果患儿及其父亲的染色体核型均为46,XY,del(18)(q21.1q21.3),母亲为46,XX。CNV-seq提示患儿为arr[19]18q21.2-q21.32(chr18:48422190-58039582)×1,即存在约10.58 Mb缺失,涉及TCF4基因,而父母均未发现相同缺失。经染色体高分辨技术发现患儿父亲18号染色体长臂的部分片段(18q21.1q21.3)插入到了5号短臂(5p13.1)。结论染色体G显带核型分析与CNV-seq技术能有效诊断Pitt-Hopkins综合征,染色体高分辨技术有助于明确染色体异常的亲代起源。展开更多
Well spread pachytene bivalents and high resolution G-handing patterns have been obtainedby using the prolonged hypotonic treatment combined with the trypsin-hot salt banding technique in the sper-maries of rice field...Well spread pachytene bivalents and high resolution G-handing patterns have been obtainedby using the prolonged hypotonic treatment combined with the trypsin-hot salt banding technique in the sper-maries of rice field eels(Monopterus albus Zuiew).Each bivalent has been idendified and a total of 310—450 bands on 12 bivalents observed.This might bethe largest number of multiple bands obtained from fish chromosomes so far published.An idiogram of 372G-bands has been set up and detailed descriptions of the landmark systems and the band positions have beengiven.展开更多
In the past few years, clear and abundant G-bands in more than ten plants have been successfully observed by use of animal and human G-banding procedures, which mainly include trypsin, ASG, AMD, urea, SDS, NaOH, NaHCO...In the past few years, clear and abundant G-bands in more than ten plants have been successfully observed by use of animal and human G-banding procedures, which mainly include trypsin, ASG, AMD, urea, SDS, NaOH, NaHCO<sub>3</sub> and Utakoji methods etc. However, all G-banding production methods have direct relations with the chemical factors. Although there is usually heat treatment （about 60℃） prior to the G-banding procedure in animal and human chromosomes, G-banding patterns have not yet been reported only by specif-展开更多
在生物工程领域里,染色体高分辨 G 带技术的出现,为人们更精细地鉴别染色体的微小变化,提供了一种新的手段。从而极大地推动了哺乳动物染色体的研究。但迄今为止,我国对猪染色体高分辨 G 带及模式图的研究报道尚少。为此,我们试用不同...在生物工程领域里,染色体高分辨 G 带技术的出现,为人们更精细地鉴别染色体的微小变化,提供了一种新的手段。从而极大地推动了哺乳动物染色体的研究。但迄今为止,我国对猪染色体高分辨 G 带及模式图的研究报道尚少。为此,我们试用不同浓度的溴乙锭、胸腺嘧啶核苷结合溴乙锭处理浙江中白猪外周血淋巴细胞,以期获得不同时期的染色体 G 带和模式图,为染色体高分辨技术在猪育种工作中提供基础资料。展开更多
文摘目的探讨1例全面发育迟滞伴智力障碍患儿的遗传学病因。方法采用染色体G显带核型分析、拷贝数变异测序(copy number variation sequencing,CNV-seq)以及染色体高分辨技术对患儿及其父母进行变异筛查,并明确其亲代来源。结果患儿及其父亲的染色体核型均为46,XY,del(18)(q21.1q21.3),母亲为46,XX。CNV-seq提示患儿为arr[19]18q21.2-q21.32(chr18:48422190-58039582)×1,即存在约10.58 Mb缺失,涉及TCF4基因,而父母均未发现相同缺失。经染色体高分辨技术发现患儿父亲18号染色体长臂的部分片段(18q21.1q21.3)插入到了5号短臂(5p13.1)。结论染色体G显带核型分析与CNV-seq技术能有效诊断Pitt-Hopkins综合征,染色体高分辨技术有助于明确染色体异常的亲代起源。
基金the National Doctorate Research Foundation of Chinathe National Natural Science Foundation of China
文摘Well spread pachytene bivalents and high resolution G-handing patterns have been obtainedby using the prolonged hypotonic treatment combined with the trypsin-hot salt banding technique in the sper-maries of rice field eels(Monopterus albus Zuiew).Each bivalent has been idendified and a total of 310—450 bands on 12 bivalents observed.This might bethe largest number of multiple bands obtained from fish chromosomes so far published.An idiogram of 372G-bands has been set up and detailed descriptions of the landmark systems and the band positions have beengiven.
基金Project supported by the National Natural Science Foundation of China.
文摘In the past few years, clear and abundant G-bands in more than ten plants have been successfully observed by use of animal and human G-banding procedures, which mainly include trypsin, ASG, AMD, urea, SDS, NaOH, NaHCO<sub>3</sub> and Utakoji methods etc. However, all G-banding production methods have direct relations with the chemical factors. Although there is usually heat treatment （about 60℃） prior to the G-banding procedure in animal and human chromosomes, G-banding patterns have not yet been reported only by specif-
文摘在生物工程领域里,染色体高分辨 G 带技术的出现,为人们更精细地鉴别染色体的微小变化,提供了一种新的手段。从而极大地推动了哺乳动物染色体的研究。但迄今为止,我国对猪染色体高分辨 G 带及模式图的研究报道尚少。为此,我们试用不同浓度的溴乙锭、胸腺嘧啶核苷结合溴乙锭处理浙江中白猪外周血淋巴细胞,以期获得不同时期的染色体 G 带和模式图,为染色体高分辨技术在猪育种工作中提供基础资料。
