(c) 2012 UNIVERSITY OF WASHINGTON
Washington UniversityのJacob Kitzman氏
胎児のDNA配列を，母親の血液と父親の唾液から正確に予測する検査法が試みられ，成功した。現在，胎児の遺伝性疾患を予測するには，胎児の周りにある羊水を針で採取する検査が行われる。検査をより簡便にすべく，妊婦の血液に胎児のDNAが含まれることを利用した方法が研究されているが，これまでは数種の疾患や特定の先天異常の予測に限られていた。今回試された新たな方法は，非常に多くの遺伝子に関して遺伝コード1文字の違いまで検出でき，予測の精度は98%だった。研究が進めば，簡単で非常に包括的な遺伝性疾患の予測が可能になると考えられる。（吉田素子）
Baby’s Genome Deciphered Prenatally from Parents’ Lab Tests
Scientists have successfully sequenced the genome of a baby in the womb without tapping its protective fluid sac. This non-invasive approach to obtaining the fetal genome is reported in the June 6 issue of Science Translational Medicine, a journal of the American Association for the Advancement of Science.
Maternal blood sampled at about 18 weeks into the pregnancy and a paternal saliva specimen contained enough information for the scientists to map the fetus’ DNA. This method was later repeated for another expectant couple closer to the start of their pregnancy. The researchers checked the accuracy of their genetic predictions using umbilical cord blood collected at birth.
Jacob Kitzman and Matthew Snyder, working in the laboratory of Dr. Jay Shendure, associate professor of genome sciences at the University of Washington, led the study. Kitzman is a National Science Foundation Graduate Research Fellow.
Scientists have long known that a pregnant woman’s blood plasma contains cell-free DNA from her developing fetus. Fetal DNA appears in the mother’s plasma a few weeks after conception. It rises during gestation and normally vanishes after the baby arrives. While the concentration varies among individuals, about 10 percent of the cell-free DNA in a pregnant woman’s blood plasma comes from her fetus.
Based on this phenomenon, other research labs are designing maternal blood tests for major aberrations in the fetus’s genetic makeup. The tests are considered a safer substitute for the more invasive sampling of fluid from the uterus, a common procedure in obstetrical practice.
［単語和訳］
Genome：ゲノム Deciphered：解読された Prenatally：出生前に Lab Tests：臨床検査
Successfully：成功裏に sequenced the genome：ゲノムの塩基配列を決定した womb：子宮 tapping：～を穿刺すること protective：保護する fluid：体液 sac：嚢 non-invasive：非侵襲的 fetal：胎児の Translational：トランスレーショナル（基礎研究を応用につなげることを目指した）（Science Translational Medicineは雑誌名） American Association for the Advancement of Science：米国科学振興協会
Maternal：母親の pregnancy：妊娠 paternal：父親の saliva：唾液 specimen：試料 fetus：胎児 expectant：子供が生まれる予定の researchers：研究者 accuracy：正確度，精度 genetic：遺伝的 predictions：予測 umbilical cord blood：臍帯血
laboratory：研究室 associate professor：准教授 National Science Foundation：全米科学財団 Graduate Research Fellow：大学院（の）研究員
pregnant：妊娠している plasma：血漿 cell-free：無細胞の conception：受胎 gestation：妊娠 vanishes：消える
phenomenon：現象 labs：研究室 blood tests：血液検査 aberrations：異常 genetic makeup：遺伝子構造 substitute for：～の代わりとなるもの invasive：侵襲的 sampling：試料採取 uterus：子宮 obstetrical：産科の
