Fanconi anemia (FA) is a rare recessive disease characterized by DNA damage repair deficiency, and DNA polymerase δ (whose catalytic subunit is encoded by POLD1, also known as CDC2) is closely related to DNA damage repair. Our previous study identified a novel POLD1 missense mutation c.56G>A (p. Arg19>His) in FA family members. However, the function of the POLD1 missense mutation is currently unknown. This study aimed to uncover the biological function of the POLD1 missense mutation.

中文翻译：

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POLD1 (CDC2) EXON2 c.56G>A突变功能的初步研究。

范可尼贫血（FA）是一种罕见的以DNA损伤修复缺陷为特征的隐性疾病，DNA聚合酶δ（其催化亚基由POLD1编码，也称为CDC2）与DNA损伤修复密切相关。我们之前的研究在 FA 家族成员中发现了一种新的POLD1错义突变 c.56G>A (p.Arg19>His)。然而， POLD1错义突变的功能目前尚不清楚。本研究旨在揭示POLD1错义突变的生物学功能。