Porcine vertebral and teat numbers are variable and important economic traits in pig production. However, the quantitative trait loci (QTL) and candidate genes for both of these traits in the Beijing Black Pig are not yet known. In the present study, number of vertebrae and number of teats were obtained for 891 individuals of the Beijing Black Pig and genotyped using the Illumina Porcine 50 K BeadChip. Genome scanning was performed to detect associated variants and candidate genes for both traits using a genome-wide association study by tassel software. For vertebral number, 15 significant SNPs were located on SSC7. According to linkage disequilibrium analysis on SSC7, a haplotype block of 221 kb from 97.4 to 97.6 Mb was shown to contain a good candidate gene ABCD4. Interestingly, on SSC12, we recorded a novel QTL containing three significant SNPs and 34 annotated genes from 24.0 to 25.7 Mb for vertebral number. Of the 34 genes, nine Hox family genes (HOXB 1-7, 9, and 13) were found to be good candidate genes. Using the 34 genes, a gene ontology analysis was performed to detect enrichment of anterior/posterior pattern specification. For teat number, a novel chromosome-wide significant QTL was identified on SSC10. In this QTL region, one significant SNP was identified. The nearest gene, NTRK2, was regarded as a candidate gene. The present results expanded the QTL for vertebral and teat numbers and provided useful molecular markers for breeding in the Beijing Black Pig population.

Background:Paroxysmal kinesigenic choreoathetosis (PKC) is an autosomal dominant condition characterized by abnormal involuntary movements precipitated by sudden movement. The pericentromeric region of chromosome 16 has been linked to PKC by several reports. This study was to localize and identify PKC gene in four Chinese PKC families.Methods:Genetic linkage mapping with eight markers spanning chromosome 16p12-q13 was performed in 43 family members. Genome-wide single nucleotide polymorphism (SNP) scans were performed on four individuals in Family 1 in which infantile convulsion (IC) was co-inherited with PKC.Results:Individuals in Family 1 presented with both IC and paroxysmal choreoathetosis (ICCA), and Families 2, 3, and 4 presented only with PKC. Evidence for linkage was found with a maximum two-point LOD score of 4.89 for D16S690 (theta = 0.0) and a maximum multipoint LOD score was 5.34 between D16S3080 and D16S3136. Haplotype analysis showed the disease locus was between D16S3093 and D16S3057. A total of 84 SNPs spanned on 16q12.1-q13 was not segregated with the PKC phenotype, which defined an unlinked region from rs9933187 to rs8044753. Thus, the critical region of the PKC gene is across the pericentromeric region of chromosome 16, and most likely maps to a region of 20.5 Mb (6.2 cM) between D16S3093 and rs9933187 (16p11.2-q12.1).Conclusion:The assignment of the locus for PKC to the pericentromeric region of chromosome 16 is confirmed and putatively narrowed in the present study.

Background and purpose: Prion protein (PrP) predominantly localized at synapses can modulate neuronal excitability. The prion protein gene ( PRNP ) has been considered one of the candidate genes that play a role in seizure susceptibility. A recent study demonstrated that the 129V allele in the PRNP gene was associated with susceptibility to temporal lobe epilepsy (TLE) in female patients in an Italian population. We screened variations in the open‐reading frame (ORF) of the PRNP gene and also replicated the association of the M129V polymorphism with TLE in a Han Chinese population. Methods: The M129V polymorphism was genotyped in 320 MTLE patients and 558 non‐epilepsy controls. All subjects were Han Chinese. Results: No novel polymorphism in the ORF of the PRNP gene was detected. Differences in the genotype distributions and allele frequencies of this polymorphism between cases and controls were insignificant ( P = 0.24). Further analysis with stratification of the results by gender or age and analysis of clinical features in relation to M129V genotypes also yielded negative findings. Conclusions: The present study provides evidence that the M129V polymorphism in the PRNP gene is not associated with MTLE in a Han Chinese population.