目的探讨1例9号环状染色体患儿临床表型异质性的细胞和分子遗传机制。方法应用细胞遗传学方法分析患儿的染色体核型，荧光原位杂交（fluorescence in situ hybridization，FISH）技术分析其性染色体，PCR扩增后进行SRY基因的测序，微阵...目的探讨1例9号环状染色体患儿临床表型异质性的细胞和分子遗传机制。方法应用细胞遗传学方法分析患儿的染色体核型，荧光原位杂交（fluorescence in situ hybridization，FISH）技术分析其性染色体，PCR扩增后进行SRY基因的测序，微阵列比较基因组杂交（arraybased comparative genomichybridization，array-CGH）基因芯片检测患儿染色体缺失的情况，并进行生物信息学分析。结果患儿为6种细胞嵌合的9号环状染色体核型，FISH分析显示性染色体为XY，测序显示SRY基因序列正常，array—CGH基因芯片检出9p24．3-p23（174201—9721761）单倍缺失，生物信息学分析提示缺失区域包含有与疾病相关的30个基因。结论9号环状染色体部分短臂缺失的临床表现多样性与遗传物质的丢失、基因单倍剂量不足、环不稳定性以及遗传方式等多因素相关。展开更多
An awned rice（Oryza sativa） plant carrying a tiny extra chromosome was discovered among the progeny of a telotrisomic line 2nt4L. Fluorescence in situ hybridization（FISH） using chromosome specific BAC clones revea...An awned rice（Oryza sativa） plant carrying a tiny extra chromosome was discovered among the progeny of a telotrisomic line 2nt4L. Fluorescence in situ hybridization（FISH） using chromosome specific BAC clones revealed that this extra chromosome was a ring chromosome derived from part of the long arm of chromosome 4. So the aneuploidy plant was accordingly named as 2nt4L ring. We did not detect any Cent O FISH signals on the ring chromosome, and found only the centromeric probe Centromeric Retrotransposon of Rice（CRR） was co-localized with the centromere-specific histone CENH3 as revealed by sequential FISH after immunodetection. The extra ring chromosome exhibited a unique segregation pattern during meiosis, including no pairing between the ring chromosome and normal chromosome 4during prophase I and pre-separation of sister chromatids at anaphase I.展开更多
基金supported by grants from the National Natural Science Foundation of China (Nos. U1302261, 31360260 and 31401357).
文摘An awned rice（Oryza sativa） plant carrying a tiny extra chromosome was discovered among the progeny of a telotrisomic line 2nt4L. Fluorescence in situ hybridization（FISH） using chromosome specific BAC clones revealed that this extra chromosome was a ring chromosome derived from part of the long arm of chromosome 4. So the aneuploidy plant was accordingly named as 2nt4L ring. We did not detect any Cent O FISH signals on the ring chromosome, and found only the centromeric probe Centromeric Retrotransposon of Rice（CRR） was co-localized with the centromere-specific histone CENH3 as revealed by sequential FISH after immunodetection. The extra ring chromosome exhibited a unique segregation pattern during meiosis, including no pairing between the ring chromosome and normal chromosome 4during prophase I and pre-separation of sister chromatids at anaphase I.
