CAJ | 학술논문

分析1例46,XY完全性性腺发育不良患者及其家系的临床及分子遗传学.收集患者的临床资料,并提取患者及其家系成员的外周血单个核细胞基因组DNA,应用PCR扩增SRY基因并直接测序,明确患者及其父母的基因突变.患者临床表现为原发性闭经、女性外生殖器、轻度乳房发育、阴毛腋毛缺如.内生殖器为子宫和条索状卵巢组织.染色体核型为46,XY.基因测序检测到患者SRY基因第66位氨基酸由丙氨酸突变为丝氨酸(A66T),并证实为一新的突变.
분석1례46,XY완전성성선발육불량환자급기가계적림상급분자유전학.수집환자적림상자료,병제취환자급기가계성원적외주혈단개핵세포기인조DNA,응용PCR확증SRY기인병직접측서,명학환자급기부모적기인돌변.환자림상표현위원발성폐경、녀성외생식기、경도유방발육、음모액모결여.내생식기위자궁화조색상란소조직.염색체핵형위46,XY.기인측서검측도환자SRY기인제66위안기산유병안산돌변위사안산(A66T),병증실위일신적돌변.
The clinical and genetic characteristics in a patient with 46,XY complete gonadal dysgenesis was investigated. Clinical features and laboratory data were collected from the patient and the family. The exon of SRY gene was amplified by PCR and sequenced. The patient presented with primary amenorrhea, nonambiguous female external genitalia, slight breast development, and no axillary hair or pubic hair. The female internal reproductive organs consisted of uterus and streaks of ovarian tissue. Howerver, the chromosome karyotype was 46,XY. A missense mutation of A66T in SRY gene was identified, which was not previously reported. The novel SRY mutation caused the sex reversal in this 46,XY female patient.