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对一个同时存在Crouzon氏综合征及21号染色体短臂增大(21p~+)的家系进行分析研究,结果表明前者属常染色体显性遗传,来自母方;后者亦按孟德尔方式遗传.来自父方。二者同时存在于一个家系的某些成员中,可能为巧合。用7.3 kb的rRNA基因探针进行染色体原位杂交证实,p~+部分系核仁组织者区(NOR)扩大或核糖体RNA(rRNA)基因的重复.本文结果为进一步研究NOR的功能提供了有用的资料,并证实用不同基因或DNA探针及染色体原位杂交技术。可检测出许多用细胞遗传学技术不能检测的染色体异常,因而具有广阔的应用前景.
An analysis of a cohort of pedigrees with both Crouzon’s syndrome and short arm enlargement (21p ~ +) on chromosome 21 showed that the former was autosomal dominant and came from the mother and the latter was inherited by Mendelian inheritance. Father. It may be coincidental that both exist in some members of a family. Chromosomal in situ hybridization with the 7.3 kb rRNA gene probe confirmed that the p ~ + portion was expanded in the nucleolar organizer region (NOR) or the duplication of the ribosomal RNA (rRNA) gene.This result provides a further study of the function of NOR Useful information, and confirmed with different genes or DNA probes and chromosomal in situ hybridization. It can detect many chromosomal abnormalities that can not be detected by cytogenetics and thus has broad application prospects.