GNAS (guanine nucleotide binding protein, alpha stimulating) gene mutant and application thereof

The invention belongs to the field of medicine and biology and relates to GNAS (guanine nucleotide binding protein, alpha stimulating) gene mutants, a GNAS gene mutant for family screening and antepartum gene screening for dominant genetic diseases. The invention provides nucleic acid of an isolate GNAS gene mutant, and GNAS gene (SEQ ID NO: 1) is of c.310delG deficiency. In addition, the invention also provides a method for detecting GNAS gene mutants. The GNAS mutant and the application thereof have the advantages that the method is simple, pseudo-hypoparathyroidism can be diagnosed in terms of molecular biology just by detecting discovered mutations specifically for a patient's family members; the gene mutant can be applied to antepartum screening for patient's fetus to provide guidance on aristogenesis. 本发明属于医药生物领域，涉及GNAS基因突变体、种用于显性遗传疾病的家系筛查和产前基因筛查的GNAS基因突变体及其应用。本发明提供种分离的GNAS基因突变体的核酸，所述GNAS基因(SEQ ID NO:1)c.310delG缺失。另外本发明还提供了种检测GNAS基因突变体的方法。本发明的优点和效果：该方法简便，只需要对患者家系成员针对性地检测已发现的突变，即可从分子生物学角度诊断假性甲状旁腺功能减退症。对患