Lv Xiaoying, Chen Yongquan, Luo Yuanyuan, Li Lingbo, Wang Houzhao
Department of Clinical Laboratory, No.174 Hospital of Chinese People's Liberation Army/Chenggong Hospital Affiliated to Xiamen University/174 Clinical College of Anhui Medical University.
Department of Clinical Laboratory, Xiamen Humanity Hospital.
Medicine (Baltimore). 2019 Aug;98(31):e16361. doi: 10.1097/MD.0000000000016361.
Habitual abortion is caused by complex and diverse factors, such as genetic factors, immune factors, endocrine factors, viruses, bacterial infections, and so on. Allogeneic antibodies, generated due to blood-group incompatibilities between a female and her fetus, are sometimes important for habitual abortion.
A 26-year-old woman had undergone abortions 3 times in July 2015 (17 weeks pregnant), March 2017 (15 weeks of gestation) and February 2018 (16 weeks pregnant) before she came to the Reproductive Medicine Center of our hospital for prenatal examinations without pregnancy.
Unexplained habitual abortion.
A series of serological tests and nucleotide sequence of 1,4-galactosyltransferase (A4GALT) gene were performed.
The patient was the rare p phenotype in P1P blood system and the patient's habitual abortion was caused by anti-PP1P antibody which was generated naturally in persons with p phenotype. There was a mutation (903C>G, CCC>CCG) in the 3rd exon of A4GALT gene, which is likely a significant contributor to p phenotype.
This is the first case of habitual abortion caused by p phenotype due to independent 903C>G homozygous mutation with no similar record reported before, which indicates that it is a new class of mutation that leads to p phenotype.
习惯性流产由复杂多样的因素引起，如遗传因素、免疫因素、内分泌因素、病毒、细菌感染等。女性与其胎儿之间血型不相容产生的同种异体抗体有时对习惯性流产很重要。
一名26岁女性在2015年7月（孕17周）、2017年3月（孕15周）和2018年2月（孕16周）经历了3次流产，之后她来到我院生殖医学中心进行未孕状态下的产前检查。
不明原因习惯性流产。
进行了一系列血清学检测及1,4-半乳糖基转移酶（A4GALT）基因的核苷酸序列检测。
患者为P1P血型系统中罕见的p表型，其习惯性流产是由p表型个体自然产生的抗-PP1P抗体所致。A4GALT基因第3外显子存在一个突变（903C>G，CCC>CCG），这可能是导致p表型的一个重要因素。
这是首例因独立的903C>G纯合突变导致p表型引起习惯性流产的病例，此前未见类似报道，表明这是一类导致p表型的新突变。
