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CLIN CHEM LAB MED:戈谢病患者的基因型/表型关系?

2020-11-30 MedSci原创 MedSci原创

戈谢病(Gaucher disease, GD)是由GBA酸性葡萄糖苷酶(acid mai -glucosidase, GBA)基因突变引起的一种最常见的遗传性溶酶体储存疾病。

戈谢病(Gaucher disease, GD)是由GBA酸性葡萄糖苷酶(acid mai -glucosidase, GBA)基因突变引起的一种最常见的遗传性溶酶体储存疾病。本研究旨在确定GD突变及其基因型-表型的相关性。

本描述性的观察研究包括1999年至2019年被诊断为GD的大学医院Virgen del Rocio患者。研究人员从数字病历中收集人口统计学和临床数据、葡萄糖脑苷酶活性、GBA基因变异和用于监测治疗的生物标记物。

研究对26例年龄在1天至52岁之间的患者进行研究,在GBA基因中总共鉴定出6个被描述为致病性突变和一个以上未描述的突变[c.937T> C(p.Tyr313His)],其中4个患者为纯合子,22个为复合杂合子。 24例患者被诊断为非神经性形式(1型),其中2例表现为神经系统受累(2或3型)。最常见的变异是c.1226A> G(p.Asn409Ser),在24位患者中被检测到,其次是c.1448T> C(p.Leu483Pro),在13位患者中被发现。 c.1448T> C(p.Leu483Pro)突变已出现在与2型和3型GD相关的神经系统受累的最严重表型中,而c.1226A> G(p.Asn409Ser)突变并未与神经系统改变相关。脾肿大和骨病是最常见的临床表现,血小板减少症是最常见的血液病。

本研究表明,最常见的是c.1226A> G(p.Asn409Ser)和c.1448T> C(p.Leu483Pro)突变。 c.937T> C(p.Tyr313His)被鉴定为新突变。 c.1448T> C(p.Leu483Pro)突变与神经系统改变有关,而c.1226A> G(p.Asn409Ser)突变与之无关。

原始出处:

Esperanza Lepe-Balsalobre, José D. SantotoribioGenotype/phenotype relationship in Gaucher disease patients. Novel mutation in glucocerebrosidase gene

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    2020-12-02 tastas
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