CAJ | 학술논문

目的对生育一例眼皮肤白化病(oculocutaneous albinism,OCA)患儿的核心家系进行基因分型诊断,在确定致病基因及基因型后进行产前诊断.方法应用聚合酶链反应扩增先证者4个OCA基因及其父母相应基因的外显子及外显子-内含子交界区,并进行DNA序列测定,明确先证者及其父母的OCA分型及基因型.对羊水细胞DNA进行相关基因的全外显子序列分析,明确胎儿的基因型.结果先证者被确定为OCA2,基因型为c.1327G＞A/c.2360C＞T突变的复合杂合子,父亲为c.2360C＞T突变杂合子.c.1327G＞A为母源新生突变,胎儿的P基因未发现突变.结论发现一例新生突变导致的OCA2患者.在进行OCA产前基因诊断时,为了防止新生突变的漏检,应对特定基因进行全序列检测.
목적 대생육일례안피부백화병(oculocutaneous albinism,OCA)환인적핵심가계진행기인분형진단,재학정치병기인급기인형후진행산전진단.방법 응용취합매련반응확증선증자4개OCA기인급기부모상응기인적외현자급외현자-내함자교계구,병진행DNA서렬측정,명학선증자급기부모적OCA분형급기인형.대양수세포DNA진행상관기인적전외현자서렬분석,명학태인적기인형.결과 선증자피학정위OCA2,기인형위c.1327G＞A/c.2360C＞T돌변적복합잡합자,부친위c.2360C＞T돌변잡합자.c.1327G＞A위모원신생돌변,태인적P기인미발현돌변.결론 발현일례신생돌변도치적OCA2환자.재진행OCA산전기인진단시,위료방지신생돌변적루검,응대특정기인진행전서렬검측.
Objective To determine the genotype of a family affected with oculocutaneous albinism (OCA) and to provide genetic counseling and prenatal diagnosis.Methods To determine the genotypes and mutational sites through PCR and sequencing for all exons and exon-intron junctions of 4OCA genes in the proband and the P gene of her parents.Prenatal genotyping of the fetus was carried out using amniocentesis sample.Results The patient was diagnosed with OCA2 based on a genotype of c.1327G＞A/c.2360C＞T.Her father was heterozygous for c.2360C＞T,whilst her mother has none of the two mutations.c.1327G＞A is therefore a maternal de novo mutation.Neither of the mutations was found in the fetus.Conclusion A maternally inherited de novo mutation c.1327G＞A has been identified in the patient.In order to detect de novo mutations,full sequence analysis is necessary.