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RHD 유전자검사로 확진된 Partial D type VI-3 증례

A Case of Partial D Type VI-3 Confirmed by RHD Genotyping

Laboratory Medicine Online 2020년 10권 4호 p.326 ~ 329
Lee Jong-Kwon, 유홍비, 정유나, 배재천, 조덕,
소속 상세정보
 ( Lee Jong-Kwon ) - Sungkyunkwan University School of Medicine Samsung Medical Center Department of Laboratory Medicine and Genetics
유홍비 ( Yu Hong-Bi ) - Sungkyunkwan University Samsung Advanced Institute for Health Sciences and Technology Department of Health Sciences and Technology
정유나 ( Chung Yoo-Na ) - Sungkyunkwan University School of Medicine Samsung Medical Center Department of Laboratory Medicine and Genetics
배재천 ( Bae Jae-Chun ) - Sungkyunkwan University School of Medicine Samsung Medical Center Department of Laboratory Medicine and Genetics
조덕 ( Cho Duck ) - Sungkyunkwan University School of Medicine Samsung Medical Center Department of Laboratory Medicine and Genetics

Abstract

약-D형은 적혈구에 표현되는 D 단백질의 양적 감소를, 부분-D형은 질적 결손을 유발한다. 이들은 혈청학적 방법만으로는 정확한 감별이 어려운데, RHD 유전자검사는 이런 혈청학적 검사를 보완할 수 있는 유용한 검사다. 본 증례는 64세 여자 환자로 미세혈관감압술을 위해 내원하였다. 환자는 수기튜브법과 자동혈액형검사장비(QWALYS-3 system; DIAGAST, France)에 의해 O형, D 음성이었고, 두 종류의 단클론성 항-D 시약(Bioscot; Merck Millipore, UK 및 Bioclone; Ortho Clinical Diagnostics, USA)을 이용한 약-D 검사와 9개의 단클론성항체(항-D IgM & IgG)로 구성된 시약(D-Screen; DIAGAST, France)으로 실시한 부분-D 검사로도 부분-D형의 세부 유형을 결정할 수 없었다. 따라서, RHD 유전자의 엑손 1에서 10까지 염기서열분석법을 추가로 실시하였고, 혈청학적으로 약한 D 표현형의 본 환자는 부분-D type 3형으로 확인되었다.

Weak D and partial D result in quantitative and qualitative changes in RhD protein expression respectively. It is difficult to discriminate weak D from partial D by serological tests alone. RHD genotyping is a useful method that complements serological results. A 64-year-old woman visited our hospital for microvascular decompression surgery. Her blood type was O, D negative by manual tube test and as per auto analyzer results (QWALYS-3 system; DIAGAST, France). Weak D and partial D tests were performed by using two different monoclonal anti-D reagents (Bioscot; Merck Millipore, UK; Bioclone; Ortho Clinical Diagnostics, USA) and a panel of nine monoclonal antibodies, including anti-D IgM and IgG (D-Screen; DIAGAST, France). However, these serological tests could not confirm the subtype of partial D. Therefore, sequencing of RHD exon 1 to 10 was additionally performed for the patient and the case was revealed to be partial DVI type 3.

키워드

RhD; Weak D; Partial D; Genotyping; Sequencing

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