Kok K, van Dijk J E, Sterk A, Baas F, van Ommen G J, de Vijlder J J
Pediatric Department, Academic Medical Centre, Amsterdam, The Netherlands.
J Hered. 1987 Sep-Oct;78(5):298-300. doi: 10.1093/oxfordjournals.jhered.a110391.
The inheritance of congenital goiter due to a thyroglobulin synthesis defect in a strain of Dutch goats has been studied by Mendelian and biochemical methods. Mendelian analysis of 301 matings, resulting in 591 kids, showed an autosomal recessive mode of inheritance. A restriction fragment length polymorphism (RFLP) in the thyroglobulin gene also was used to confirm the recessive mode of inheritance of the defect. In a pedigree consisting of 27 goats, spanning four generations, the genotype determined by RFLP study was in accordance with the observed phenotype and the autosomal inheritance of the defect. Although phenotypically no differences were detected between normal and heterozygous animals, the use of RFLPs allowed the diagnosis of the three genotypes.
通过孟德尔遗传学和生化方法,对一群荷兰山羊中由于甲状腺球蛋白合成缺陷导致的先天性甲状腺肿的遗传情况进行了研究。对301次交配产生的591只羔羊进行孟德尔分析,结果显示其遗传方式为常染色体隐性遗传。甲状腺球蛋白基因中的限制性片段长度多态性(RFLP)也被用于证实该缺陷的隐性遗传方式。在一个由27只山羊组成、跨越四代的家系中,通过RFLP研究确定的基因型与观察到的表型以及该缺陷的常染色体遗传情况相符。尽管在表型上未检测到正常动物和杂合动物之间存在差异,但RFLP的应用使得三种基因型得以诊断。