The novel HLA-A*02:405 allele characterized by sequencing-based typing.

HLA-A*02:405 differs from HLA-A*02:06:01:01 by one nucleotide substitution in codon 161 in exon 3.

The novel HLA-A*02:404 allele, identified by Sanger dideoxy nucleotide sequencing in a Chinese individual.

HLA-A*02:404 differs from HLA-A*02:06:01:01 by one nucleotide substitution in codon 116 in exon 3.

Characterization of the novel HLA-B*15:269 allele by sequencing-based typing.

HLA-B*15:269 differs from HLA-B*15:63 by two nucleotide substitutions in exon 3.

A novel HLA allele, HLA-B*07:248, detected in a Chinese hematopoietic stem cell donor and platelet donor.

HLA-B*07:248 has one nucleotide change from HLA-B*07:18:01 where Tyrosine (Y) is changed to Serine (S).

[Analysis of two novel variants of FUT1 gene in a Chinese family with para-Bombay phenotype].

OBJECTIVE: To study rare para-Bombay blood type Bmh and to investigate the molecular genetic basis of para-Bombay phenotype in a Chinese family. METHODS: ABO and H phenotype of the proband and her pedigree were determined with serological methods. The ABO genotype was analyzed by polymerase chain reaction-sequence specific primer(PCR-SSP). The full coding region of alpha-l,2 fucosyltransferase (FUT1) gene of the pedigree was analyzed by polymerase chain reaction and direct sequencing of the amplified fragments. The haplotype of the FUT1 gene were analyzed by cloning sequencing. RESULTS: The rare para-Bombay blood type Bmh was identified in the proband, with ABO*B.01/ABO*O.01.01 genotype. Two variants of FUT1 gene, c.508dupT and c.787A>C, were found in the proband. The cloning sequencing revealed that the two variants were on different alleles, and the haplotype of FUT1 gene was h508dupT/h787C. Both of the two variants were predicted to cause inactivation of the enzyme, which is consistent with the result of serological techniques. CONCLUSION: Two new alleles of FUT1 gene (h508dupT and h787C), which were associated with para-Bombay phenotype, were identified in the Chinese pedigree.

A novel HLA allele, HLA-A*32:74, detected by sequencing in a Chinese individual.

HLA-A*32:74 has one nucleotide change from HLA-A*32:01:01:01 where alanine (211) is changed to glutamate.

Discovery of the novel HLA allele, HLA-DRB1*15:123, in a hematopoietic stem cell donor from China.

HLA-DRB1*15:123 has one nucleotide change from HLA-DRB1*15:01:01:01 where Threonine (90) is changed to Isoleucine.

Detection of the novel HLA allele, HLA-B*46:64, in a Chinese platelet donor by sequence-based typing.

HLA-B*46:64 has one nucleotide change from HLA-B*46:01:01:01 where Histidine (113) is changed to Arginine.

Characterization of the novel HLA allele, HLA-DRB1*08:76.

HLA-DRB1*08:76 is a novel allele differing by a single nucleotide from the HLA-DRB1*08:03:02 allele.

Discovery of the novel HLA-B*52:49N allele in a Chinese individual.

HLA-B*52:49N has one nucleotide change from HLA-B*52:01:01:01 where 601G (GAG) is changed to T(TAG).

Identification of a novel HLA-A allele, HLA-A*31:97, by sequence-based typing.

HLA-A*31:97 differs by three nucleotide and two amino acid changes from HLA-A*31:01:02:01.

Detection of a novel HLA-B allele, HLA-B*55:71, in a Chinese hematopoietic stem cell donor and platelet donor.

HLA-B*55:71 has one nucleotide change from HLA-B*55:02:01:01 where histidine (3) is changed to tyrosine.

Two novel FUT1 alleles that cause para-Bombay phenotype in a Chinese individual.

BACKGROUND: Bombay and para-Bombay phenotypes, which arise from gene mutations of α-1,2-fucosyltransferase FUT1, are very rare in Chinese population. A para-Bombay phenotype Chinese individual with two novel FUT1 mutations was reported here. STUDY DESIGN AND METHODS: The peripheral blood and saliva samples of the proband and her family members were collected after informed consent. ABO and H blood group phenotyping was performed by haemagglutination methods. ABO genotype was determined by PCR-SSP kit. A, B, and H antigens in saliva were detected by a hemagglutination inhibition test. Fragments encompassing the full coding region of FUT1 and FUT2 genes were PCR amplified and sequenced. Allelic sequences were validated by cloning and sequencing individual colonies. RESULTS: The serologic reaction results of the proband revealed that A, B, and H antigen were absent on RBCs, but B and H antigen were presented in saliva, and the serum contains anti-H. The proband was assigned as B/O1 by ABO genotyping. Two new heterozygous mutations of FUT1 gene, c.508dupT and c.787A>C, were identified through direct sequencing of PCR-amplified products. TA cloning and sequencing confirmed that two novel mutations were on different alleles. FUT2 gene sequence of the proband is consistent with standard. The other family members of the proband showed normal phenotypes of ABO blood group and their genotypes are consistent with phenotypes. CONCLUSION: Two novel FUT1 alleles, with the previously not reported mutations c.508dupT and c.787C, respectively, are responsible for the para-Bombay phenotype detected in the sample from the proband.

Identification of HLA-A*31:73 in a platelet donor from China by sequence-based typing.

HLA-A*31:73 has one nucleotide change from HLA-A*31:01:02:01 where Serine (71) is changed to Alanine.

Detection of a novel allele, HLA-B*15:01:39, by sequence-based typing in a platelet donor from China.

HLA-B*15:01:39 has one synonymous nucleotide change from HLA-B*15:01:01:01 at nucleotide 117 (residue 15 Proline).

HLA-A*02:411 identified in a platelet donor from China.

HLA-A*02:411 differs from HLA-A*02:01:01:01 at nucleotides 770 and 771, where Threonine (T) replaces Isoleucine (I) at residue 233.

A novel HLA-A allele, HLA-A*31:72, detected in a Chinese hematopoietic stem cell donor and platelet donor.

HLA-A*31:72 has one nucleotide change from HLA-A*31:01:02:01, where histidine (188) is changed to arginine.

Detection of a novel HLA-B*46 allele, HLA-B*46:01:08, in a Chinese platelet donor.

HLA-B*46:01:08 has one synonymous nucleotide change from HLA-B*46:01:01 at nucleotide 801 (codon 243 Lysine).

HLA-A*11:01:46, a novel HLA-A*11 variant, detected in a Chinese individual.

HLA-A*11:01:46 has one synonymous nucleotide change from HLA-A*11:01:01:01 at nucleotide 807 (codon 245 Alanine).