Gomez-Raya L, Okomo-Adhiambo M, Beattie C, Osborne K, Rink A, Rauw W M
Department of Animal Biotechnology, University of Nevada, Reno, Nevada 89557, USA.
Genetics. 2007 May;176(1):585-97. doi: 10.1534/genetics.106.070268.
Cutaneous malignant melanoma in Sinclair swine is a hereditary disease that develops in utero or during the first 6 weeks of life. In many cases, the tumors regress and piglets survive the disease. Two different sets of gene(s) might be involved in the disease: tumor initiator (suppressor) locus or loci and loci affecting the aggressiveness of the disease (number and stage of tumors). We develop maximum-likelihood methods for interval mapping for both types of loci. The experimental design consisted of a boar mated to tumor-bearing sows with recording of tumor status and number of tumors in the 6 weeks of life of the offspring. The model to search for the tumor initiator locus (with alleles T and t) was tested by computer simulation. Estimates of penetrances (Psi(TT) and Psi(Tt) for genotypes TT and Tt, respectively) were accurate even for small family sizes. Statistical power was >99% for a family size of 70 with Psi(TT) = 1 and Psi(Tt) = 0. The models to test for number of tumors incorporated genotype information for the tumor initiator locus. All models were tested with data from a single boar family of 72 piglets over swine chromosomes 6 and 8 (SSC6 and SSC8). No tumor evidence for initiator loci was found associated with these chromosomes. However, association of a QTL affecting number of tumors at birth near microsatellite SW1953 on SSC8 was chromosomewise significant (P<0.0124).
辛克莱猪的皮肤恶性黑色素瘤是一种遗传性疾病,在子宫内或出生后的前6周内发病。在许多情况下,肿瘤会消退,仔猪能从这种疾病中存活下来。可能有两组不同的基因参与该疾病:肿瘤起始(抑制)位点和影响疾病侵袭性的位点(肿瘤的数量和阶段)。我们针对这两种类型的位点开发了用于区间定位的最大似然法。实验设计包括让一头公猪与患肿瘤的母猪交配,并记录后代出生后6周内的肿瘤状态和肿瘤数量。通过计算机模拟对寻找肿瘤起始位点(等位基因T和t)的模型进行了测试。即使对于小家系规模,基因型TT和Tt的外显率估计值(分别为Ψ(TT)和Ψ(Tt))也是准确的。对于家系规模为70且Ψ(TT)=1和Ψ(Tt)=0的情况,统计功效>99%。用于测试肿瘤数量的模型纳入了肿瘤起始位点的基因型信息。所有模型都用来自一个包含72头仔猪的公猪家系的数据进行了测试,这些仔猪分布在猪的6号和8号染色体(SSC6和SSC8)上。未发现与这些染色体相关的肿瘤起始位点证据。然而,在SSC8上微卫星SW1953附近,一个影响出生时肿瘤数量的QTL的关联在染色体水平上具有显著性(P<0.0124)。