Molecular and Genetic Mechanism of Three Cases of Para-Bombay Blood Group / 中国实验血液学杂志

<p><b>OBJECTIVE</b>To explore molecular and genetic mechanism of 3 cases of para-Bombay blood group.</p><p><b>METHODS</b>The bood samples of proband and family members were selected to identify their blood groups with conventional serologic methods, and salivary components carrying the ABH antigens were detected. The coding regions of FUT1 as well as exon 6 and 7 of the ABO gene were amplified using polymerase chain reaction(PCR), and the FUT1 gene was directly sequenced.</p><p><b>RESULTS</b>All the 3 cases of proband were confirmed as para-Bombay blood group. Direct sequencing revealed h new2 (nt328G→A) and h1(nt 547 ΔAG) in FUT1 gene of the proband 1, and FUT1 genotype was h1/h new2. However, the genotypes of his parents were H/h1 and H/h new2, which were non-Bombay individuals. The FUT1 genotypes of proband 2 and 3 were h1h2 (nt 547 ΔAG) and h1h2 (nt 880 ΔTT), respectively.</p><p><b>CONCLUSION</b>The technology of molecular biology can be used to detect the base deletion mutations in FUT1 gene, which contributes to the analysis of molecular and genetic mechanism of para-Bombay blood group.</p>

A novel missense mutation resulting in X-linked adrenoleukodystrophy in female heterozygotes of a Chinese family / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify ABCD1 gene mutation in a Chinese family with three heterozygous female patients.</p><p><b>METHODS</b>Four fragments covering the entire coding sequence of the ABCD1 gene from one of the female patients were amplified by reverse transcription-PCR. The PCR products were directly sequenced. The result of sequencing was confirmed by restriction enzyme digestion of PCR products from genomic DNA. Human ABCD1 gene and ALD protein were aligned with those of rat, monkey, mouse and cattle by Clustal X 1.83. Softwares of Motif Scan, TMpred and ESYpred3D were used to predict the effect of the mutation on the structure of the ALD protein.</p><p><b>RESULTS</b>A novel missense mutation, CAC to CGC, was found at codon 283 of the ABCD1 gene from the patient, resulting in the replacement of histidine by arginine. This mutation abolished an Msl I site in the gene. Her son was free from this mutation. The mutated amino acid residue (283H) was highly conservative in evolution, and the mutation caused a dramatic change in the structure of the ALD protein.</p><p><b>CONCLUSION</b>Three female patients heterozygous for ABCD1 gene mutation were first reported in China, and a novel mutation, p.H283R, was identified in this X-ALD family.</p>

Molecular diagnosis of a Chinese pedigree with osteogenesis imperfecta type I / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To perform molecular diagnosis for a Chinese pedigree with osteogenesis imperfecta type I.</p><p><b>METHODS</b>Thirty pairs of primers were designed to amplify all the 52 exons, exon boundaries and promoter region of the COL1A1 gene from genomic DNA of peripheral blood cells of the family members. The PCR products were purified and directly sequenced. To check the mutation in normal controls, the genomic DNA from peripheral blood cells of the index patient, his mother and 60 normal controls were analyzed by amplification refractory mutation system.</p><p><b>RESULTS</b>A missense mutation of GAT>CAT was identified at codon 1441 of the COL1A1 gene from the family, which resulted in the replacement of aspartic acid by histidine (D1441H). This mutation was not found in a group of 60 normal controls.</p><p><b>CONCLUSION</b>The method for molecular diagnosis of osteogenesis imperfecta was established and a novel COL1A1 gene mutation, D1441H, was identified in the Chinese pedigree with osteogenesis imperfecta type I.</p>