Additional file 4 of A recurrent de novo missense mutation in COL1A1 causes osteogenesis imperfecta type II and preterm delivery in Normande cattle

Additional file 4: Figure S1. Electropherograms of selected individuals for a 40-bp segment encompassing the COL1A1 candidate variant. Electropherograms of an affected calf, a control half-sib carrying the at-risk haplotype in its ancestral version (i.e., without the mutation), and their sire Ly. The region displayed ranges from positions 36,473,946 to 36,473,985 bp on BTA19. The position of the candidate substitution is highlighted in red; *Note the low proportion of allele A versus G in Ly supporting germline mosaicism.

补充文件4：图S1。针对包含Ⅰ型胶原α1链基因（COL1A1）候选变异的40bp片段，展示了3类选定个体的电泳图谱：分别为患病犊牛、携带未发生突变的祖先型风险单倍型的对照半同胞个体，以及二者的父本Ly。本次展示的区域位于牛19号常染色体（BTA19）的36473946至36473985 bp区间内。候选碱基替换的位置以红色标注；*请注意，Ly样本中A等位基因与G等位基因的占比偏低，该结果支持其存在生殖系嵌合现象。