A Case of AB Para-Bombay Phenotype with Weak A Antigen Expression.

BACKGROUND: The Para-Bombay phenotype is characterized by H antigen partially or totally deficient on red blood cells and the presence of ABH substances in body fluids. METHODS: A patient with discrepant results in forward and reverse ABO phenotyping was further investigated by serological and molecular methods. RESULTS: Ortho gel and tube results showed weak A antigen expression and weak antibody reacting with A and B cells. Absorption-elution assay detected B antigen, and saliva test confirmed substances H were present. The patient was confirmed as A102B101 and Le(a+b+) phenotype. CONCLUSIONS: These findings suggest that the case is AB Para-Bombay Phenotype (secretor).

Homozygous FUT1 Mutations Causing a Para-Bombay Phenotype: a Pedigree Investigation Report.

BACKGROUND: Para-Bombay phenotype is rare in ABO blood group. We describe FUT1 mutations in a Chinese woman with the para-Bombay phenotype, including her familial inheritance. METHODS: ABO grouping, H antigen detection, absorptionelution test, salivary antigen substance detection, deter-mination of titer of ABH antibody, ABO genotyping, gene sequencing (FUT1,2), blood transfusion compatibility test, and pedigree investigation were performed. RESULTS: The patient was confirmed as group A1 para-Bombay phenotype (Amh) in her family's investigation, revealing her FUT1 gene had c.658C>T (p.Arg220Cys) homozygous mutation and FUT2 gene had c.357C>T homozygous mutation. The patient was provided an appropriate transfusion solution. CONCLUSIONS: A combination of using classical serological methods, gene sequencing methods and pedigree investigation methods can effectively analyze the genetic inheritance of patients with para-Bombay phenotype, increasing their choices of blood transfusion.

Genomic Characteristics and Selection Signatures in Indigenous Chongming White Goat (Capra hircus).

The Chongming white goat (CM) is an indigenous goat breed exhibits unique traits that are adapted to the local environment and artificial selection. By performing whole-genome re-sequencing, we generated 14-20× coverage sequences from 10 domestic goat breeds to explore the genomic characteristics and selection signatures of the CM breed. We identified a total of 23,508,551 single-nucleotide polymorphisms (SNPs) and 2,830,800 insertion-deletion mutations (indels) after read mapping and variant calling. We further specifically identified 1.2% SNPs (271,713) and 0.9% indels (24,843) unique to the CM breed in comparison with the other nine goat breeds. Missense (SIFT < 0.05), frameshift, splice-site, start-loss, stop-loss, and stop-gain variants were identified in 183 protein-coding genes of the CM breed. Of the 183, 36 genes, including AP4E1, FSHR, COL11A2, and DYSF, are involved in phenotype ontology terms related to the nervous system, short stature, and skeletal muscle morphology. Moreover, based on genome-wide F ST and pooled heterozygosity (Hp) calculation, we further identified selection signature genes between the CM and the other nine goat breeds. These genes are significantly associated with the nervous system (C2CD3, DNAJB13, UCP2, ZMYND11, CEP126, SCAPER, and TSHR), growth (UCP2, UCP3, TSHR, FGFR1, ERLIN2, and ZNF703), and coat color (KITLG, ASIP, AHCY, RALY, and MC1R). Our results suggest that the CM breed may be differentiated from other goat breeds in terms of nervous system owing to natural or artificial selection. The whole-genome analysis provides an improved understanding of genetic diversity and trait exploration for this indigenous goat breed.