Reciprocal translocation is a chromosomal structural abnormal- ity that arises when two non-homologous chromosomes rearrange and attach with each other, an incidence that occurs in about 1/500 to 1/625 newborns （Mackie and Scriven, 2002）. This event typically does not lead to any significant loss of genetic material, thus recip- rocal translocation carriers do not exhibit any severe abnormal phenotypes （Scriven et al., 1998; Zhang et al., 2016）.
Salt stress is a major problem in most of the rice growing areas in the world. A major QTLSaltol associated with salt tolerance at the seedling stage has been mapped on chromosome 1 in rice.This study aimed to characterize the haplotype diversity at Saltol and additional QTLs associated withsalt tolerance. Salt tolerance at the seedling stage was assessed in 54 rice genotypes in the scale of 1to 9 score at EC = 10 dSm^-1 under controlled environmental conditions. Seven new breeding linesincluding three KMR3/O. rufipogon introgression lines showed similar salt tolerant ability as FL478 andcan be good sources of new genes/alleles for salt tolerance. Simple sequence repeat （SSR） markerRM289 showed only two alleles and RM8094 showed seven alleles. Polymorphic information contentvalue varied from 0.55 for RM289 to 0.99 for RM8094 and RM493. Based on 14 SSR markers, the 54lines were clearly separated into two major clusters. Fourteen haplotypes were identified based onSaltol linked markers with FL478 as the reference. Alleles of RM8094 and RM3412 can discriminatebetween the salt tolerant and susceptible genotypes clearly and hence can be useful in marker-assistedselection at the seedling stage. Other markers RM10720 on chromosome 1 and RM149 and RM264 onchromosome 8 can also distinguish tolerant and susceptible lines but with lesser stringency.
The task to identify whether an archival malignant tumor specimen had been mislabeled or interchanged is a challenging one for forensic genetic&The nuclear DNA(nDNA)markers were affected by the aberration of tumor cells,so they were not suitable for personal identification when the tumor tissues were tested.In this study,we focused on a new solution-mitochondrial single nucleotide polymorphism(mtSNP)haplotyping by a multiplex SNaPshot assay.To validate our strategy of haplotyping with 25 mtSNPs,we analyzed 15 pairs of cancerous/healthy tissues taken from patients with ductal breast carcinoma.The haplotypes of all the fifteen breast cancer tissues were matched with their paired breast tissues.The heteroplasmy at 2 sites,14783A/G and 16519C/T was observed in one breast tissue,which indicated a mixture of related mitochondrial haplotypes.However,only one haplotype was retained in the paired breast cancer tissue,which could be considered the result of proliferation of tumor subclone.The allele drop-out and allele drop-in were observed when 39 STRs and 20 tri-allelic SNPs of nDNA were applied.Compared to nDNA markers applied,25 mtSNPs were more stable without interference from aberrance of breast cancer.Also,two cases were presented where the investigation of haplotype with 25 mtSNPs was used to prove the origin of biopsy specimen with breast cancer.The mislabeling of biopsy specimen with breast cancer could be certified in one case but could not be supported in the other case.We highlight the importance of stability of mtSNP haplotype in breast cancer.It was implied that our multiplex SNaPshot assay with 25 mtSNPs was a useful strategy to identify mislabeled breast cancer specimen.
