九代人中的13号与14号染色体易位及一例易位纯合子病例
Translocation t(13;14) in nine generations with a case of translocation homozygosity.
作者信息
Eklund A, Simola K O, Ryynänen M
机构信息
Department of Medical Genetics, University of Helsinki, Finland.
出版信息
Clin Genet. 1988 Feb;33(2):83-6. doi: 10.1111/j.1399-0004.1988.tb03415.x.
The Robertsonian translocation 5(13;14)(p11;q11) was studied in three families with probable common ancestry in Eastern Finland. In the largest family the translocation has segregated through at least nine generations. The same family also included a female who was homozygous for t(13;14). No clear-cut effect of the translocation on fertility could be demonstrated and only one case of trisomy 13 was recorded in the offspring of t(13;14) carriers. The results are discussed, with implication for human chromosomal evolution.
对芬兰东部三个可能有共同祖先的家族中的罗伯逊易位5(13;14)(p11;q11)进行了研究。在最大的那个家族中，这种易位至少已经分离了九代。同一个家族中还包括一名t(13;14)纯合子女性。未发现这种易位对生育能力有明确影响，在t(13;14)携带者的后代中仅记录到一例13三体病例。对研究结果进行了讨论，并探讨了其对人类染色体进化的意义。
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