Jiang Erlie, Pan Jie, Han Mingzhe, Chen Liang, Ma Qiaoling, Wei Jialin, Huang Yong, Feng Sizhou, Sun Qin, Xiao Peili, Zheng Zhongzheng
Department of Hematology, Tianjin Hematonosis Hospital, Tianjin, China.
DNA Typing Laboratory, Shanghai Tissuebank Biotechnology Co., LTD, Shanghai, China.
Int J Legal Med. 2016 Jan;130(1):23-6. doi: 10.1007/s00414-015-1166-6. Epub 2015 Mar 25.
Alleles at the D7S820 STR locus have 6-14 different numbers of a four-nucleotide (GATA) repeat motif arranged in tandem. The D7S820 tri-allelic pattern is rare and has not been reported in the Chinese population. In this study we report a three-banded pattern at the D7S820 locus observed in a Chinese family, in which four family members in two generations had tri-allelic D7S820 genotype 10-11-12 and one family member had an abnormal bi-allele genotype 10-11. All of the four tri-allelic cases had the genotype 10-11-12, probably due to three copies of the D7S820 STR sequence in all cells (Type 2 tri-allelic pattern), and deduced alleles 10-11 were a linked inheritance in this family.
D7S820短串联重复序列(STR)位点的等位基因具有6 - 14个以串联方式排列的四核苷酸(GATA)重复基序。D7S820的三等位基因模式较为罕见,在中国人群中尚未见报道。在本研究中,我们报告了在中国一个家族中观察到的D7S820位点的三条带模式,其中两代中的四名家族成员具有三等位基因D7S820基因型10 - 11 - 12,一名家族成员具有异常的双等位基因基因型10 - 11。所有四个三等位基因病例均具有基因型10 - 11 - 12,可能是由于所有细胞中D7S820 STR序列有三个拷贝(2型三等位基因模式),并且推断等位基因10 - 11在该家族中为连锁遗传。