Thomson G
Am J Hum Genet. 1984 Mar;36(2):466-70.
The genotypic distribution among patients of a marker allele, or restriction fragment length polymorphism (RFLP), can be used to determine the mode of inheritance of a disease-predisposing gene, if the association of the marker with the disease is sufficiently high. In the case of noninsulin-dependent diabetes mellitus (NIDDM), the RFLP in the 5'-flanking region of the human insulin gene does not allow discrimination between dominant and recessive modes of inheritance, or between any intermediate model. Also, it is demonstrated, in general, that the observation of a higher odds ratio for individuals with two copies of a marker allele than for individuals with at least one copy does not in itself imply a gene-dosage model.
如果一个标记等位基因或限制性片段长度多态性(RFLP)在患者中的基因型分布与疾病的关联足够高,那么它可用于确定疾病易感基因的遗传模式。在非胰岛素依赖型糖尿病(NIDDM)的情况下,人类胰岛素基因5'侧翼区域的RFLP无法区分显性和隐性遗传模式,也无法区分任何中间模式。此外,一般来说,观察到具有两个标记等位基因拷贝的个体比具有至少一个拷贝的个体具有更高的优势比,这本身并不意味着基因剂量模型。