脆性X在“前突变”/“非印记”状态下的表达。

Expression of the fragile-X in the "premutated"/"non-imprinted" state.

作者信息

Bilas R, Wilhelm D, Schwinger E, Chudley A E, Fryns J P, Howard-Peebles P N, Schinzel A, Van Roy B, Webb T

机构信息

Institut für Humangenetik, Medizinische Universität zu Lübeck, Germany.

出版信息

Genet Couns. 1992;3(4):179-81.

PMID:1361753

Abstract

Data about the expression of the fragile site at Xq27.3 from 74 daughters of normal transmitting males (NTMs) were collected from 7 different genetic centers. The majority (85.1%) of these obligate female carriers did not show any cytogenetic expression of fra-X. The remaining 14.9% of these females had frequencies below 3%. In cases with a frequency below 3% of fra-X, a "premutated"/"non imprinted" state of a female carrier should be considered. The results of this collaborative study are in accordance with data from DNA studies taking the premutation model into account.

摘要

从7个不同的基因中心收集了74名正常传递男性（NTM）女儿的Xq27.3脆性位点表达数据。这些必然的女性携带者中，大多数（85.1%）未表现出任何脆性X染色体的细胞遗传学表达。其余14.9%的女性频率低于3%。在脆性X染色体频率低于3%的情况下，应考虑女性携带者的“前突变”/“非印记”状态。这项合作研究的结果与考虑前突变模型的DNA研究数据一致。