한 가족에서 발견된 Weak D Type 102: 국내 첫 보고
Weak D Type 102 Found in a Family Study: The First Case in Korea
이범기, 정유나, 유홍비, 김태열, 최광모, 조덕,
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이범기 ( Lee Beom-Ki )
Sungkyunkwan University School of Medicine Samsung Medical Center Department of Laboratory Medicine and Genetics
정유나 ( Chung Yoo-Na )
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
김태열 ( Kim Tae-Yeul )
Sungkyunkwan University School of Medicine Samsung Medical Center Department of Laboratory Medicine and Genetics
최광모 ( Choi Kwang-Mo )
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
Weak D type 102 allele (RHD*01W.102) carrying a missense variant (c.73A>T, p.Ile25Phe) in exon 1 of the RHD has not been reported in Koreans to date. This is the first report of the weak D type 102 allele in the Korean population. The proposita, a 35-year-old woman, showed a serological weak D phenotype in routine RhD typing. Sequencing of all 10 RHD exons and zygosity testing targeting the hybrid Rhesus box revealed this proposita to harbor the weak D type 102 allele, as well as an RHD deletion (RHD*01W.102/RHD*01N.01). Family studies showed that the weak D type 102 allele was also present in her father and older brother (both assumed to be RHD*01W.102/RHD*01) but not in her mother and oldest brother (both assumed to be RHD*01/RHD*01N.01). In silico analysis of the replacement of isoleucine by phenylalanine at position 25 was done with PolyPhen-2, SIFT, and PROVEAN. While PolyPhen-2 predicted the variant as benign, SIFT and PROVEAN predicted it as damaging and deleterious, respectively, suggesting RHD c.73A>T (I25F) as the cause of serologic weak D phenotype. This patient should be treated as D-negative, when transfusion is needed.
키워드
RHD; Genotyping; Weak D; Rhesus box; In silico analysis
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