To analyze the polymorphism of TAP gene and the shared rates of alleles between mothers and their infants in Chinese patients with pre-eclampsia, TAP1 and TAP2 genotyping was performed by the amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) in 42 patients, 106 normal pregnant women, and their neonates. The allelic frequency of TAP and the alleles shared in maternal-fetus were compared and analyzed in the two groups. Our results showed that, with totally eight alleles of TAP1 and TAP2 examined in the samples, no significant difference was found in allelic frequencies between pre-eclampsia group and control group, as well as between mothers and their neonates. Similar finding was obtained in the comparison with shared alleles. In conclusion, our results do not support a role for the polymorphisms of TAP in the etiology of pre-eclampsia.
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J Clin Immunol
January 2025
Division of Allergy and Immunology, Children's Hospital of Philadelphia, Philadelphia, 19104, USA.
Major histocompatibility complex class I deficiency results from deleterious biallelic variants in TAP1, TAP2, TAPBP, and B2M genes. Only a few patients with variant-curated TAP1 deficiency (TAP1D) have been reported in the literature and the clinical phenotype has been variable with an emphasis on autoimmune and inflammatory complications. We report TAP1D in a Nepalese girl with a severe clinical phenotype with serious viral infections at a very young age.
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