Objective To compare the theory of mind(TOM) abilities between autistic children's parents and the normal children' s,and to indirectly prove that TOM deficit in autism maybe related to heredity in cognitive neuropsychology.Methods This study examines TOM abilities in 32 autistic children' s parents and 32 normal children' s parents,using the computerized Yoni task and an extensive battery of neuropsychological tests.Results In contrast to findings in the control group,autistic children' s parents showed significantly lower scores in affective theory of mind( (23.06 ±5.12)vs(25.63 ±4.47),P＜0.01 ) and special emotion( ( 10.13 ±4.14)vs ( 14.87 ±2.21 ),P＜0.05),but not in cognitive theory of mind( (22.75 ±5.01 ) vs(22.56 ±5.63),P＞0.05).Conclusion The autistic children' s parents are impaired in affective theory of mind,and to indirectly prove that autistic TOM deficit maybe related to heredity in cognitive neuropsychology.

OBJECTIVETo analyze the molecular basis for an individual with ABx09 phenotype of ABO subtype.

METHODSThe ABO group antigens on red blood cells of the proband were identified by monoclonal antibodies, and the ABO antibody in serum was detected by standard A, B, O cells. The exons 1 to 7 of ABO gene were amplified by polymerase chain reaction (PCR) respectively and the PCR products were sequenced directly. The amplified products for exons 5 to 7 were also cloned by TOPO TA cloning sequencing kit to split the two alleles apart, selected colonies were sequenced bidirectionally for exons 5 to 7 of the ABO gene. The samples of the proband's parents were collected, then serological test of the blood group and sequence analysis for exons 6 and 7 of ABO gene were preformed.

RESULTSBoth A and B antigens were detected on red blood cells of the proband and there was anti-B antibody in the serum. There was no G deletion at position 261, while 297AG in exon 6, 467CT, 526CG, 657CT, 703GA, 796CA, 803GC, 889GA and 930GA heterozygote in exon 7 were detected by direct DNA sequencing, which can be assigned for A102Bx09 genotype. After cloning and sequencing, two alleles A102 and Bx09 were obtained. The sequence of Bx09 had one nucleotide changes (G to A) at position 889 compared with that of B101, which resulted in an amino acid change of Glu to Lys at 297 position. The Bx09 in the proband was inherited from her mother by family investigation.

CONCLUSIONG to A at nt889 of alpha-1,3 galactosyltransferasegene can result in Bx09 phenotype, with the presence of anti-B antibody in serum.

ABO Blood-Group System ; genetics ; metabolism ; Adolescent ; Alleles ; Base Sequence ; Blood Grouping and Crossmatching ; Female ; Gene Frequency ; Genotype ; Humans ; Molecular Sequence Data ; Pedigree ; Phenotype

OBJECTIVETo clone and investigate the polymorphism of the 5'-untranslated region (5'-UTR) of the human ABO gene, in order to provide the basis for exploring the transcriptional regulation of the human ABO histo-blood group genes.

METHODSABO phenotypes of 30 unrelated healthy blood donors were determined by serological technique, their genotypes were analyzed by sequencing the exons 6 and 7 of the ABO gene. Nearly 5 kb of the 5'-UTR of ABO gene was obtained by PCR amplification and sequencing was performed bidirectionally. Haplotypes of samples with heterozygous sites in the 5'-UTR of ABO gene were separated and analyzed after cloning.

RESULTSTwenty polymorphic sites were identified in these samples where ABO genotypes were consistent with serological phenotypes. It included sixteen nucleotide sequence variations, one 8 bp deletion, one 6 bp deletion/insertion, one 36 bp insertion and one 43 bp repeats. Among them, 11 were novel polymorphic sites. Seven different haplotypes of 5'-UTR of ABO gene were defined to the cis/trans linkage of those mutations.

CONCLUSIONThere were polymorphisms in the 5'-UTR of ABO gene and the nucleotide sequences near the proximal promoter were conservative.

5' Untranslated Regions ; genetics ; ABO Blood-Group System ; genetics ; Cloning, Molecular ; Genotype ; Haplotypes ; Humans ; Polymorphism, Genetic ; Sequence Analysis, DNA

In December 2019, coronavirus disease 2019 (COVID-19), a new de novo infectious disease, was first identified in Wuhan, China and quickly spread across China and around the world. The etiology was a novel betacoronavirus, the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) (Lu et al., 2020). On Mar. 11, 2020, World Health Organization (WHO) characterized COVID-19 as a global pandemic. As of Mar. 22, 2020, over 292 000 confirmed COVID-19 cases have been reported globally. To date, COVID-19, with its high infectivity, has killed more people than severe acute respiratory syndrome (SARS) and Middle East respiratory syndrome (MERS) combined (Wu and McGoogan, 2020).
Adult ; Betacoronavirus ; COVID-19 ; COVID-19 Testing ; China ; Clinical Laboratory Techniques ; Coronavirus Infections/diagnostic imaging* ; Female ; Fever/virology* ; Humans ; Lymphocyte Count ; Male ; Middle Aged ; Pandemics ; Pneumonia, Viral/diagnostic imaging* ; Radiography, Thoracic ; SARS-CoV-2 ; Tomography, X-Ray Computed ; Treatment Outcome

OBJECTIVE: To investigate the molecular mechanism in stable cell strains expressing Mini-hF9 gene with nonsense mutation. METHODS: Mini-hF9 gene and its nonsense mutants were transfected into HeLa cells independently, and stable cell strains were obtained after G418 resistance screening and monoclonal transformation. The altered splicing and protein expression of mRNA in Mini-hF9 gene in stable cell strains were detected by using RT-PCR and Western blot. RESULTS: The wild type and nonsense mutated human coagulation factor IX stable cell strains were constructed successfully, which were named HeLa-F9-WT, HeLa-F9-M1 and HeLa-F9-M2. Only normal splicing Norm was detected in the wild-type cell strain HeLa-F9-WT; Norm and Alt-S1 splicing were detected in HeLa-F9-M1; while Norm, Alt-S1 and Alt-S2 splicing were detected in HeLa-F9-M2. CONCLUSION The nonsense associated altered splicing (NAS) pathway, which generated alternately spliced transcripts, might be triggered in coagulation factor IX gene with nonsense mutation.
Codon, Nonsense ; Factor IX/metabolism* ; HeLa Cells ; Humans ; Mutation ; RNA Splicing ; RNA, Messenger/metabolism*