Giannelli F, Anson D S, Choo K H, Rees D J, Winship P R, Ferrari N, Rizza C R, Brownlee G G
Lancet. 1984 Feb 4;1(8371):239-41. doi: 10.1016/s0140-6736(84)90122-3.
DNA from 33 healthy White subjects was analysed with a 2 X 5 kilobase subgenomic DNA probe derived from the gene for coagulation factor IX, containing the exon "d" region of that gene. Intragenic Taq I restriction-fragment length polymorphism was revealed, with allelic frequencies estimated at 0 X 65 and 0 X 35 (SE = 0 X 06), also detectable by a cDNA probe. The genomic DNA probe is technically superior to the cDNA probe and has been used in three families with haemophilia B (factor IX deficiency). The polymorphic marker segregates with the deleterious mutation, allowing the identification or exclusion of carriers. The allelic frequencies of the Taq I polymorphism are virtually ideal. Therefore, such a polymorphism should be helpful both in genetic counselling of approximately 40% of affected families and in prenatal diagnosis.
用一个源自凝血因子IX基因的2×5千碱基亚基因组DNA探针，对33名健康白人受试者的DNA进行了分析，该探针包含该基因的外显子“d”区域。揭示了基因内Taq I限制性片段长度多态性，等位基因频率估计为0.65和0.35（标准误=0.06），用cDNA探针也可检测到。基因组DNA探针在技术上优于cDNA探针，已用于三个乙型血友病（因子IX缺乏症）家庭。多态性标记与有害突变分离，可用于识别或排除携带者。Taq I多态性的等位基因频率几乎是理想的。因此，这种多态性在约40%受影响家庭的遗传咨询和产前诊断中都应有所帮助。
