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METHOD FOR PRECONCEPTION PREDICTION OF RISK OF SEPTAL CONGENITAL HEART DEFECTS FORMATION IN FETUS

机译:预测胎儿先天性先天性心脏缺陷形成风险的方法

摘要

FIELD: medicine.;SUBSTANCE: method includes molecular and genetic testing of couples, planning a pregnancy, prior to gestation, with identification of the female allele HLA-DRB1*03, HLA-DRB1*12 and male genotype HLA-DRB1*01.04. Possible prediction of a congenital defect is calculated by the formula ; where Y is the probability of the risk of septal congenital heart disease forms formation in subsequent generations (%); X1 is the female allele HLA-DRB1*03, wherein X1 has the value of0 in the absence of the allele in the genotype,X1=1 in the presence of HLA-DRB1*03 allele in the heterozygote, andX1=2 in the presence of HLA-DRB1*03 allele in the homozygote;X2 is the male genotype HLA-DRB1*01.04,X2=0 in the absence of the given genotype,X2=1 in the presence of HLA-DRB1*01.04 genotype;X3 is the female allele HLA-DRB1*12, respectively, X3=0 in the absence of the allele in the genotype,X3=1 in the presence of HLA-DRB1*12 allele in the heterozygote, and X3=2 in the presence of HLA-DRB1*12 allele in the homozygote.;EFFECT: increased efficiency and reliability of prediction of septal congenital heart defects formation in the fetus during the subsequent pregnancy.;3 ex, 1 tbl
机译:领域:医学;研究对象:方法包括对夫妇进行分子和基因检测,在妊娠前计划怀孕,鉴定女性等位基因HLA-DRB1 * 03,HLA-DRB1 * 12和男性基因型HLA-DRB1 * 01.04。先天性缺陷的可能预测由公式计算; 其中Y是在后代中形成先天性心脏病的风险的概率( %); X 1 是雌性等位基因HLA-DRB1 * 03,其中在基因型X 1不存在等位基因的情况下,X 1 的值为0。在杂合子中存在HLA-DRB1 * 03等位基因时,Sub> = 1;在纯合子中有HLA-DRB1 * 03等位基因时,X 1 = 2; X 2 是男性基因型HLA-DRB1 * 01.04,X 2 = 0,不存在给定的基因型,X 2 = 1,存在HLA-DRB1 * 01.04基因型; X 3 分别是雌性等位基因HLA-DRB1 * 12,在基因型X 3不存在等位基因的情况下,X 3 = 0杂合子中存在HLA-DRB1 * 12等位基因时 = 1,纯合子中有HLA-DRB1 * 12等位基因时X 3 = 2。效果:增加后续妊娠期间胎儿中隔先天性心脏缺陷形成的预测效率和可靠性。; 3 ex,1 tbl

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