Tsipouras P, Sarfarazi M, Devi A, Weiffenbach B, Boxer M
Department of Pediatrics, University of Connecticut Health Center, Farmington 06030.
Proc Natl Acad Sci U S A. 1991 May 15;88(10):4486-8. doi: 10.1073/pnas.88.10.4486.
Marfan syndrome is a systemic disorder of the connective tissue inherited as an autosomal dominant trait. The disorder imparts significant morbidity and mortality. The etiology of the disorder remains elusive. A recent study localized the gene for Marfan syndrome on chromosome 15. We present data showing that marker D15S48 is genetically linked to Marfan syndrome. Pairwise linkage analysis gave a maximum lod (logarithm of odds) score of Z = 11.78 at theta = 0.02. Furthermore our data suggest that the Marfan syndrome locus is possibly flanked on either side by D15S48 and D15S49.
马凡综合征是一种遗传性结缔组织全身性疾病，呈常染色体显性遗传。该疾病会导致较高的发病率和死亡率。其病因仍不明确。最近一项研究将马凡综合征基因定位到了15号染色体上。我们提供的数据表明，标记物D15S48与马凡综合征存在遗传连锁关系。成对连锁分析得出，在θ = 0.02时，最大对数优势（lod）得分为Z = 11.78。此外，我们的数据表明，马凡综合征基因座可能位于D15S48和D15S49两侧。
