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The study identified a novel missense mutation in the hairless (hr) gene, specifically a G to A transition at cDNA position 3034, resulting in a D1012N substitution, which was linked to congenital atrichia in a 17-year-old female with alopecia universalis congenita. This mutation was homozygous in the patient, heterozygous in her mother, and absent in her sister, and was not found in 326 chromosomes from healthy individuals, indicating it was not a common polymorphism. The mutation affected the hairless thyroid receptor interacting domain 2, crucial for binding to the thyroid hormone receptor, underscoring its functional importance. The findings enhanced the understanding of the genetic basis of congenital alopecias and the role of the hr gene, with implications for diagnosing hr-related disorders.

Protein microarrays, as a proteomic technology, were divided into analytical and functional types, each with distinct applications in biochemistry and molecular biology. Analytical arrays, such as antibody microarrays, were used for multiplexed detection and biomarker identification, while functional arrays studied protein interactions and immune responses. The technology was applied in drug discovery and profiling immune responses, including identifying kinase substrates and autoantigens. Specifically, protein microarrays identified 8 autoantigens related to alopecia areata using a cDNA clone array, and distinguished immune responses in SARS-infected individuals with high sensitivity. Despite advancements, challenges in specificity, sensitivity, and automation persisted.

The study aimed to correct ornithine transcarbamylase (OTC) deficiency in spf-ash mice by introducing the rat OTC gene. Researchers achieved this by mating spf-ash heterozygotes with transgenic mice carrying a recombinant DNA construct. This construct included a 1.3 kb 5′ flanking region of the gene fused to rat OTC cDNA. The resulting transgenic spf-ash mice exhibited liver OTC activity approximately twice that of nontransgenic spf-ash mice and small intestinal OTC activity six times higher, reaching 12% and 27% of normal control levels, respectively. These transgenic mice displayed normal hair growth, nearly normalized urinary orotic acid excretion, and normalized serum citrulline concentration, indicating a successful partial correction of the OTC deficiency.