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
Cytogenetic indicators,especially dicentric chromosomes,have been globally considered the gold standard of biological dose estimation for more than 60 years.The application of these indicators to biological dose estim...Cytogenetic indicators,especially dicentric chromosomes,have been globally considered the gold standard of biological dose estimation for more than 60 years.The application of these indicators to biological dose estimation in victims of radiation accidents in China has undergone approximately 40 years of development and thus provides more accurate information for the clinical diagnosis and patients’treatment.This paper reviews the application and future development of cytogenetic indicators,including chromosomal aberrations(dicentric chromosomes and chromosomal translocations),cytokinesis-block micronuclei,nucleoplasmic bridges,and premature condensation chromosome ring,as biodosimeters in China.展开更多
A 27-year-old patient with azoospermia and low intelligence was reported having a rare karyotype 47,XYY,dup(13q12.11),t(4;9)(q21.1;q22.3),r(21)(p12q22.3).Clinical genetic tests,including next-generation sequencing(NGS...A 27-year-old patient with azoospermia and low intelligence was reported having a rare karyotype 47,XYY,dup(13q12.11),t(4;9)(q21.1;q22.3),r(21)(p12q22.3).Clinical genetic tests,including next-generation sequencing(NGS),karyotyping,fluorescence in situ hybridization(FISH),and azoospermia factor(AZF)microdeletions,were conducted.The results showed that(1)one copy of chromosome 21 lost a short arm and appeared as a marker,but subsequent detection confirmed that it was a ring 21;(2)there was a reciprocal translocation between chromosome 4 and chromosome 9;(3)NGS revealed a duplication of 0.3 Mb on 13q12.11 and two Y chromosomes;(4)the Y chromosome showed no AZF microdeletions;and(5)FISH confirmed the two Y chromosomes.To our knowledge,this is the first reported case with rare karyotype,combined with four abnormal chromosomal changes simultaneously.Because no Online Mendelian Inheritance in Man genes were found in duplication fragment on 13q12.11,this duplication is not associated with low intelligence.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.
基金This work was supported by Key Science and Technology Project of Henan Province,China,IDs:142102310086Medical Science and Technology Reseach of Henan Province,China,IDs:LHGJ20190815。
文摘Cytogenetic indicators,especially dicentric chromosomes,have been globally considered the gold standard of biological dose estimation for more than 60 years.The application of these indicators to biological dose estimation in victims of radiation accidents in China has undergone approximately 40 years of development and thus provides more accurate information for the clinical diagnosis and patients’treatment.This paper reviews the application and future development of cytogenetic indicators,including chromosomal aberrations(dicentric chromosomes and chromosomal translocations),cytokinesis-block micronuclei,nucleoplasmic bridges,and premature condensation chromosome ring,as biodosimeters in China.
文摘A 27-year-old patient with azoospermia and low intelligence was reported having a rare karyotype 47,XYY,dup(13q12.11),t(4;9)(q21.1;q22.3),r(21)(p12q22.3).Clinical genetic tests,including next-generation sequencing(NGS),karyotyping,fluorescence in situ hybridization(FISH),and azoospermia factor(AZF)microdeletions,were conducted.The results showed that(1)one copy of chromosome 21 lost a short arm and appeared as a marker,but subsequent detection confirmed that it was a ring 21;(2)there was a reciprocal translocation between chromosome 4 and chromosome 9;(3)NGS revealed a duplication of 0.3 Mb on 13q12.11 and two Y chromosomes;(4)the Y chromosome showed no AZF microdeletions;and(5)FISH confirmed the two Y chromosomes.To our knowledge,this is the first reported case with rare karyotype,combined with four abnormal chromosomal changes simultaneously.Because no Online Mendelian Inheritance in Man genes were found in duplication fragment on 13q12.11,this duplication is not associated with low intelligence.
