Murray J C, Bennett S R, Kwitek A E, Small K W, Schinzel A, Alward W L, Weber J L, Bell G I, Buetow K H
Department of Pediatrics, University of Iowa, Iowa City 52242.
Nat Genet. 1992 Sep;2(1):46-9. doi: 10.1038/ng0992-46.
Rieger syndrome is an autosomal dominant disorder of morphogenesis in which previous cytogenetic arrangements have suggested chromosome 4 as a candidate chromosome. Using a group of highly polymorphic short tandem repeat polymorphisms (STRP), including a new tetranucleotide repeat for epidermal growth factor (EGF), significant linkage of Rieger syndrome to 4q markers has been identified. Tight linkage to EGF supports its role as a candidate gene, although a recombinant in an unaffected individual has been identified. This study demonstrates the utility of using polymorphic STRP markers when only a limited number of small families are available for study.
里格尔综合征是一种常染色体显性形态发生障碍疾病，此前的细胞遗传学研究提示4号染色体可能是候选染色体。利用一组高度多态性的短串联重复多态性（STRP），包括一种新的表皮生长因子（EGF）四核苷酸重复序列，已确定里格尔综合征与4q标记存在显著连锁。尽管在一名未患病个体中发现了重组现象，但与EGF的紧密连锁支持其作为候选基因的作用。这项研究证明了在仅有少数小家族可供研究时，使用多态性STRP标记的实用性。
