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小鼠(7.18)罗伯逊易位杂合携带者后代中的传递比率畸变

Transmission ratio distortion in offspring of mouse heterozygous carriers of a (7.18) Robertsonian translocation.

作者信息

Underkoffler Lara A, Mitchell Laura E, Abdulali Zaki S, Collins Joelle N, Oakey Rebecca J

机构信息

Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

出版信息

Genetics. 2005 Feb;169(2):843-8. doi: 10.1534/genetics.104.032755. Epub 2004 Nov 1.

Abstract

Transmission ratio distortion (TRD) is defined as a significant departure from expected Mendelian ratios of inheritance of an allele or chromosome. TRD is observed among specific regions of the mouse and human genome and is frequently associated with chromosome rearrangements such as Robertsonian (Rb) chromosomes. We intercrossed mice heterozygous for a (7.18) Rb translocation and genotyped chromosomes 7 and 18 in 1812 individuals, 47% of which were informative for chromosome segregation. We substantiated previous findings that females were less likely than expected to transmit the Rb chromosome to their offspring. Surprisingly, however, we report that heterozygous males transmitted the Rb translocation chromosome significantly more frequently than the acrocentrics. The transmission of the Rb chromosome was not significantly influenced by either the sex of the Rb grandparent or the strain of the Rb.

摘要

传递比率失真(TRD)被定义为等位基因或染色体的遗传孟德尔比率出现显著偏离预期的情况。在小鼠和人类基因组的特定区域观察到了TRD,并且它经常与染色体重排相关,比如罗伯逊(Rb)染色体。我们使携带(7.18)Rb易位的杂合小鼠进行杂交,并对1812只个体的7号和18号染色体进行基因分型,其中47%的个体对染色体分离具有信息价值。我们证实了之前的发现,即雌性将Rb染色体传递给后代的可能性低于预期。然而,令人惊讶的是,我们报告杂合雄性传递Rb易位染色体的频率显著高于近端着丝粒染色体。Rb染色体的传递不受Rb祖父母的性别或Rb品系的显著影响。

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