Johnson V P, Altherr M R, Blake J M, Keppen L D
Department of OB/GYN, University of South Dakota School of Medicine, Sioux Falls.
Am J Med Genet. 1994 Aug 1;52(1):70-4. doi: 10.1002/ajmg.1320520114.
Wolf-Hirschhorn syndrome (WHS) is due to a deletion in the terminal band of 4p16.3. Among loci that have been involved in deletions are D4S98, D4S95, D4S125, D4F26, as shown by PCR typing, Southern blot hybridization, and/or fluorescent in situ hybridization (FISH). Currently, FISH detection of WHS is predicted upon the deletion of the D4F26 locus with failure to hybridize to pC847.351, a commercially available cosmid probe. A WHS patient is shown to have an interstitial deletion, by hemizygosity at D4S98 and D4S95 but not at D4F26. This suggests that the tip of 4p, specifically D4F26, is not a critical deletion site for WHS.
沃尔夫-赫希霍恩综合征（WHS）是由4p16.3末端条带的缺失所致。通过聚合酶链反应（PCR）分型、Southern印迹杂交和/或荧光原位杂交（FISH）显示，参与缺失的基因座包括D4S98、D4S95、D4S125、D4F26。目前，WHS的FISH检测是基于D4F26基因座的缺失，即未能与市售黏粒探针pC847.351杂交。一名WHS患者通过D4S98和D4S95半合子性但D4F26无半合子性显示存在间质性缺失。这表明4p末端，特别是D4F26，不是WHS的关键缺失位点。
