Correlation between type Ⅱ CD36 deficiency and intron polymorphism / 中国输血杂志

【Objective】 To study the correlation between type ⅡCD36 deficiency and the polymorphism of intron sequence. 【Methods】 A total of 516 random healthy platelet donors from Liaoning Blood Center were involved: 241 of them were tested for CD36 antigen and CD36 gene sequence; the remaining 275 cases were sequenced only. CD36 antigen was detected by flow cytometry, and gene sequence was analyzed by PCRamplification and sequencing. 【Results】 Among the 241 samples, 1 case of type Ⅰ deficiency and 4 cases of type Ⅱ deficiency were detected, with frequencies of 0.41% and 1.66%, respectively. There was no nucleotide change in the coding region of 3 cases of typeⅡdeficiency. All individuals with type Ⅱ deficiency shared a common polymorphism in the intron 3, that is, carried (TG) 11 and 12 linked variants, and both were located in the same allele. The gene frequency of (TG)11 in the 516 random population was only 11.72%, which was much lower than 30.43% of (TG)13. The gene frequency of 12 linked variants in the random population was 8.81%. Almost all 12 linked variants occurred simultaneously with (TG)11, but only about 72.7% of (TG)11 were tandem with 12 linked variants. Flow cytometry showed that the expression of CD36 antigen on platelet in samples carrying only (TG)11 was comparable to that of normal samples, while the vast majority of samples carrying both (TG)11 and 12 linked variants had significantly lower CD36 antigen levels. 【Conclusion】 The (TG)11 in the intron 3 region is not platelet-specific silent allele, but there are some indirect correlations. There may be multiple platelet-specific silent allele.

Analysis of two novel variants of FUT1 gene in a Chinese family with para-Bombay phenotype / 中华医学遗传学杂志

OBJECTIVE@#To study rare para-Bombay blood type Bm@*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 Bm@*CONCLUSION@#Two new alleles of FUT1 gene (h

Analysis and identification of a novel CD36 allele, 1142 T>G / 中国组织工程研究

BACKGROUND:As a main antigen of platelet, CD36 antigen is also known as platelet glycoprotein IV (GPIV). The mutation of CD36 gene may result in deficiency of the antigen. OBJECTIVE:To identify a novel CD36 alele. METHODS: DNA was isolated from peripheral blood sample, and 12 coding regions of CD36 gene were amplified by PCR. Sequencing-based typing was used to analyze the sequence of the target regions. The derived sequences were aligned with the standard sequence of NG_008192 in GenBank to identify the novel alele. RESULTS AND CONCLUSION: 1142 T>G mutation was detected in exon 12 of CD36 gene of the proband, and the other regions were consistent with the standard sequence. No data or report about 1142 T>G was found in GenBank or National Center for Biotechnology Information (NCBI), and thus it was reported to GenBank and received by number KM275213. 1142 T>G results in amino acid 381 Leu>Ser of the CD36 protein. There is a big difference in hydrophilia and polarity of the two amino acids. Also the 381 amino acid locates in highly conserved region. Thus it is speculated that 1142 T>G may reduce or vanish the activity of the protein.

Study of a case with homozygous 35C>T and 658C>T mutations of FUT1 gene leading to a para-Bombay phenotype / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the molecular mechanism for a case with para-Bombay phenotype caused by α-1,2-fucosyltransferase (FUT1) gene mutations.</p><p><b>METHODS</b>Blood phenotype of the propositus was determined by standard serological testing. Polymerase chain reaction-sequence specific primer (PCR-SSP) and direct sequencing of PCR product were used to analyze its ABO genotype. The PCR product of FUT1 gene was sequenced and analyzed.</p><p><b>RESULTS</b>The phenotype of the propositus was initially detected as para-Bombay A type. Direct sequencing of ABO gene showed that the genotype of the proband was A101/O01 (261G/del), which was consistent with the result of PCR-SSP. Two homo-mutations, 35C>T and 658C>T, were detected in the FUT1 gene by sequencing, and the genotype was determined as h(35T+658T)/h(35T+658T).</p><p><b>CONCLUSION</b>h(35T+658T)/h(35T+658T) is responsible for the para-Bombay phenotype of the propositus. The genotype is rare even in para-Bombay populations.</p>

Identification of a novel allele HLA-B*37:04:02 / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To report on a novel HLA allele identified in a Chinese individual.</p><p><b>METHODS</b>Routine HLA genotyping was carried out with polymerase chain reaction-sequence specific oligonucleotide probes (PCR-SSOP) and sequencing-based typing (SBT).</p><p><b>RESULTS</b>A new HLA allele has been identified. The sequence differed from its closest allele B*37:04:01 at nt618 (GCG→GCA), which resulted in no change of codon 206.</p><p><b>CONCLUSION</b>A novel HLA allele HLA-B*37:04:02 (GU391034) has been identified and officially named by the WHO Nomenclature Committee.</p>

Identification of a novel HLA allele HLA-DRB1*09:01:07 / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify and confirm a novel HLA allele in a Chinese Han individual.</p><p><b>METHODS</b>HLA typing was performed by polymerase chain reaction-sequence specific oligonucleotide probes (PCR-SSOP) for HLA-A, -B and -DRB1 in a registered donor of China Marrow Donor Program(CMDP). Sequencing-based typing (SBT) was carried out to further confirm the novel allele of HLA-DRB1.</p><p><b>RESULTS</b>The SSOP result showed HLA-DRB1*09:03,15GEP, but an unusual pattern that could not be defined indicated potential presence of a novel allele. The SBT result showed the novel sequence has 1nt change from its closest allele DRB1*09:01:02 at nt306 where C to T(codon 73 GCC to GCT) resulting in no amino acid change. 73A was not changed.</p><p><b>CONCLUSION</b>A novel HLA allele, HLA-DRB1*09:01:07, has been identified and named officially by WHO Nomenclature Committee for Factors of the HLA System.</p>

Molecular genetic analysis of a weak D phenotype / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the molecular basis for an individual with a rare weak D phenotype.</p><p><b>METHODS</b>Serological methods were used to characterize the RhD blood group phenotype. The exons of RHD gene were amplified with PCR and sequenced. The presence of Rhesus box was tested by PCR to determine the homozygosity of RHD gene.</p><p><b>RESULTS</b>The RhD blood group of the proband was detected as weak D. The 10 exons of the RHD gene and Rhesus box could be amplified by PCR, and the genotype of RHD alleles was determined as RHD+/RHD-. The exons of the RHD gene were sequenced, and a 365C>T mutation in exon 3 was detected. Therefore, the RhD blood group of the proband was confirmed as weak D type 54 by both serological methods and DNA sequencing.</p><p><b>CONCLUSION</b>A weak D type 54 has been detected. A 365C>T mutation in RHD gene is responsible for the low expression of D antigen.</p>

Study on a 905A to G mutation of α 1,3 galactosyltransferase gene / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the effect of 905A to G mutation of α -1,3 galactosyltransferase of ABO gene on B antigen expression.</p><p><b>METHODS</b>Three samples were diagnosed as B subgroup by serological test. Genotyping and sequencing were performed with polymerase chain reaction-sequence specific primer (PCR-SSP), direct sequencing and gene dones of exons 6 and 7 of the ABO locus.</p><p><b>RESULTS</b>The sequence of B allele has differed from that of regular B101 allele with a 905A to G missense mutation in exon 7, which resulted in an amino acid substitution (D302G) in all of the three B subgroup samples.</p><p><b>CONCLUSION</b>905A to G mutation can reduce the expression of B antigen.</p>