Holmgren G, Blomquist H K, Drugge U, Gustavson K H
Department of Clinical Genetics, University of Umeå, Sweden.
Am J Med Genet. 1988 May-Jun;30(1-2):673-9. doi: 10.1002/ajmg.1320300168.
Eleven families including 35 cases with fra(X) mental retardation (MR) were traced genealogically using the Research Archives at Umeå University. Seven of the cases were women with fra(X). All of the families originated partly or totally from the county of Västerbotten. It was possible to link 7 of the index families to common ancestors over an 8-11 generation span. The remaining 4 families were not traced to the same ancestors. However, they were linked together pair-wise over a 7-8 generation span. Transmission of the fra(X) mutation was studied in these families. In the pedigree analyses, priority was given to maternal transmission. In 2 families the fra(X) mutation was transmitted solely through females over 7 or 8 generations respectively. Within 9 families the mutation was transmitted by males in 2-5 generations in order to reach common ancestors.
利用于默奥大学的研究档案，对11个家庭（包括35例脆性X智力障碍患者）进行了系谱追踪。其中7例为脆性X女性患者。所有家庭部分或全部来自韦斯特博滕郡。在8至11代的跨度内，有可能将7个索引家庭与共同祖先联系起来。其余4个家庭未追溯到同一祖先。然而，它们在7至8代的跨度内成对相连。对这些家庭中脆性X突变的传递进行了研究。在系谱分析中，优先考虑母系传递。在2个家庭中，脆性X突变分别仅通过女性传递了7代或8代。在9个家庭中，为了追溯到共同祖先，突变由男性传递了2至5代。
