Bioinformatics Issue๐Ÿงฌ

HLA(Human Leukocyte Antigen)๋ž€ ๋ฌด์—‡์ธ๊ฐ€?

ํžˆ์Šคํ†ค 2022. 1. 3. 17:27

์ธ๊ฐ„๋ฐฑํ˜ˆ๊ตฌํ•ญ์›(HLA)์€ ์ฃผ์กฐ์ง ์ ํ•ฉ์„ฑ ๋ณตํ•ฉ์ฒด(Major Histocompatibility Complex, MHC)์˜ ํ•œ ๋ถ€๋ถ„์ด๋‹ค.

HLA๋Š” ํŠน์ • ์ „๋ฌธํ™”๋œ ๋‹จ๋ฐฑ(ํ•ญ์›)์œผ๋กœ ์‹ ์ฒด์˜ ๋ชจ๋“  ์œ ํ•ต ์„ธํฌ์˜ ํ‘œ๋ฉด์— ๋ฐœํ˜„๋˜์–ด ์žˆ๊ณ , ์ด ๋‹จ๋ฐฑ๋“ค์˜ ์œ ์ „์ž๋“ค์ด ์žˆ๋‹ค. ๋ชจ๋“  ์‚ฌ๋žŒ๋“ค์˜ ๋ฐฑํ˜ˆ๊ตฌ(leukocytes)์™€ ๋‹ค๋ฅธ ์œ ํ•ต์„ธํฌ ํ‘œ๋ฉด์— ์กด์žฌํ•˜๋Š” HLA ํ•ญ์›์˜ ์กฐํ•ฉ์€ ์œ ์ „์ด๋‹ค. HLA ๊ฒ€์‚ฌ๋Š” ์ฃผ์š” HLA ์œ ์ „์ž์™€ ์„ธํฌ ํ‘œ๋ฉด์— ๋ฐœํ˜„ํ•˜๋Š” ํ•ด๋‹น ์œ ์ „์ž์— ๋Œ€ํ•œ ํ•ญ์›์„ ํ™•์ธํ•œ๋‹ค.

์ด๋Ÿฌํ•œ ํ•ญ์›๊ณผ MHC ์‹œ์Šคํ…œ์€ ๋ฉด์—ญ ์‹œ์Šคํ…œ์˜ ๊ด€๋ฆฌ์— ์ค‘์š”ํ•œ ์—ญํ• ์„ ํ•œ๋‹ค. ๊ทธ๋“ค์€ ์‹ ์ฒด์˜ ๋ฉด์—ญ ์ฒด๊ณ„๊ฐ€ ์–ด๋А ์„ธํฌ๊ฐ€ "์ž๊ธฐ(self)"์ธ์ง€, ์–ด๋А ๊ฒƒ์ด  "์™ธ๋ถ€" ๋˜๋Š” “๋น„์ž๊ธฐ(non-self)”์ธ์ง€ ๊ตฌ๋ณ„ํ•˜๋Š” ๋ฐ ๋„์™€์ค€๋‹ค. "๋น„ ์ž๊ธฐ"๋กœ ์ธ์‹๋˜๋Š” ๋ชจ๋“  ์„ธํฌ๋Š” ํ•ญ์ฒด์˜ ์ƒ์‚ฐ์„ ํฌํ•จํ•œ ๋ฉด์—ญ ๋ฐ˜์‘์„ ์ผ์œผํ‚ฌ ์ˆ˜ ์žˆ๋‹ค.

์ด๊ฒƒ์€ ์˜ํ•™์ ์œผ๋กœ ์กฐ์ง ๋˜๋Š” ๊ธฐ๊ด€(๋“ค)์„ ์ด์‹ ํ•  ๋•Œ ์ค‘์š”ํ•˜๋‹ค. ๊ณจ์ˆ˜ ์ด์‹์—์„œ ์ด์‹์ด ์„ฑ๊ณตํ•˜๊ณ  ์ด์‹๋œ ์กฐ์ง์ด ์ˆ˜ํ˜œ์ž์˜ ๋ฉด์—ญ ์‹œ์Šคํ…œ์— ์˜ํ•ด ๊ฑฐ๋ถ€๋ฐ˜์‘์„ ์ผ์œผํ‚ค๊ฑฐ๋‚˜ ๊ณต๊ฒฉ๋ฐ›์ง€ ์•Š๋„๋ก ๊ธฐ์ฆ์ž์™€ ์ˆ˜ํ˜œ์ž์˜ HLA ์œ ์ „์ž๊ฐ€ ๋™์ผํ•˜๊ฑฐ๋‚˜ ๊ฐ€๋Šฅํ•œ ์ผ์น˜ํ•ด์•ผ ํ•œ๋‹ค. ๋˜ํ•œ, ๊ณจ์ˆ˜ ๊ธฐ์ฆ์ž์™€ ์ˆ˜ํ˜œ์ž๊ฐ€ ๊ฐ€๋Šฅํ•œ ์ผ์น˜ํ•ด์•ผ ๊ธฐ์ฆ๋œ ๊ณจ์ˆ˜์— ์žˆ๋Š” ๋ฉด์—ญ์„ธํฌ(๋ฆผํ”„๊ตฌ)๊ฐ€ ์ˆ˜ํ˜œ์ž์˜ ์„ธํฌ๋ฅผ ๊ณต๊ฒฉํ•˜์ง€ ์•Š๋Š”๋‹ค

 

A generalised workflow for NGS-based HLA genotyping.  A  Sequence data are generated by HLA-specific target enrichment, mostly short- or long-range PCR. Long PCR products are fragmented for sequencing by short-read technologies.  B  Reads specific to the HLA genes are retrieved by mapping.  C  Three examples of HLA genotyping algorithms: read mapping to the reference allele repository, as implemented by PHLAT or OptiType; consensus-sequence-based typing, as implemented by HLA-VBSeq; and graph-based typing, as implemented by HLA*PRG-LA or Kourami.