무정자증 불임남성에서 관찰된 SRY 유전자의 중복을 동반한 일동원체성 derivative Y 염색체 (Monocentric Derivative Y Chromosome with Duplication of the SRY Gene in an Azoospermic Male)

서지정보

· 발행기관 : 대한의학유전학회
· 수록지 정보 : Journal of Genetic Medicine / 7권 / 2호 / 160 ~ 164페이지
· 저자명 : 박소연, 최은영, 이봄이, 박주연, 이연우, 오아름, 이신영, 김신영, 한유정, 이미범, 류현미, 서주태

초록

Y염색체의구조적이상은 남성의정상적인고환의분화와정자생성과정에영향을미친다.본증례의무정자증남성의혈액세포에서관찰된 비정상Y 염색체는SRY를 포함한부분적단완 중복과 Yq12 이질염색질 결실로 재배열된 일동원체성derivative Y염색체이다.이러한형태의Y염색체에대해서는매우드물게보고되어있다.이는분자세포유전학및분자유전학 검사를 통하여 46,X,der(Y)(pter→q11.23::p11.2→pter).ish der(Y)(DYZ3+,DYZ1-,SRY++)의결과를얻었다.증례의남성은비정상Y염색체를가졌음에도불구하고정상적인 고환의 크기와 혈액내 성호르몬의 수치는 정상이었다.
하지만 양측성 정계정맥류와 고환생검결과 정자형성기능저하증의소견을보였다.이러한비정상Y염색체는부계의감수분열또는배발생초기단계에서Y염색체자매염색분체의재배열또는Y염색체내비대립동종재조합(Non-allelic homolo-

영어초록

Structural abnormalities of the Y chromosome affect normal testicular differentiation and spermatogenesis.
The present case showed a rare monocentric derivative Y chromosome with partial duplication of Yp including the SRY gene and deletion of Yq12 heterochromatin. The karyotype was 46,X,der(Y)(pter→q11.23::p11.2→pter).ish der(Y)(DYZ3+,DYZ1-,SRY++), confirmed through a FISH study. Even though the patient possessed an abnormal Y chromosome, testicular biopsy showed normal testicular volumes in the proband, with gonadal hormonal levels in the normal range but bilateral varicocele and hypospermatogenesis. We speculate that the abnormal Y chromosome arose from sister chromatids during Y chromosome recombination or intra chromosomal NAHR (non-allelic homologous recombination)during meiosis in the patient’s father or in the very early stages of embryogenesis. The derivative Y chromosome might interfere in the meiotic stage of spermatogenesis, leading to the developmental arrest of germ cells. The present case illustrates that the infertility phenotype can have various causes. Also, it emphasizes the importance of accurate and various genetic analyses and could aid in male infertility treatment.

참고자료

· 없음