15号染色体上与马凡氏综合征基因座侧翼的10个基因座的连锁图谱：一项国际协作组研究的结果
A linkage map of 10 loci flanking the Marfan syndrome locus on 15q: results of an International Consortium study.
作者信息
Sarfarazi M, Tsipouras P, Del Mastro R, Kilpatrick M, Farndon P, Boxer M, Bridges A, Boileau C, Junien C, Hayward C
机构信息
Department of Pediatrics, University of Connecticut Health Center, Farmington 06030.
出版信息
J Med Genet. 1992 Feb;29(2):75-80. doi: 10.1136/jmg.29.2.75.
Members of an International Consortium for Linkage Analysis of the Marfan Syndrome (MFS1) have pooled data for joint analysis in an attempt to determine the precise location of the MFS1 gene and the order of 10 DNA markers on 15q. Five laboratories performed a total of 2111 genotypes in 22 families consisting of 225 affected and 248 normal subjects. For each marker a mean of 98 meioses was informative. D15S48 and D15S1 were identified as the closest linked markers with 99% upper confidence intervals of 12% and 13% respectively. We have used the CRI-MAP program to construct the most likely order as: D15S24-D15S25-D15S1-MFS1-D15S48-D15S49+ ++-(D15S45/S51)-(D15S29/S38). Placement of D15S2 in relation to -D15S1-D15S48- cannot be determined with certainty. The genetic map of these markers extends 53.6 cM in males and 65.0 cM in females with a sex averaged map of 60.7 cM. The sex difference was statistically significant (p = 0.005). Linkage heterogeneity between 22 MFS1 families was documented (p = 0.009) necessitating the exclusion of one family from the analysis. However, comparison of the remaining 21 families for two point and multipoint lod scores showed no evidence for linkage heterogeneity of the MFS1 locus.
一个马凡氏综合征（MFS1）连锁分析国际联盟的成员汇集数据进行联合分析，试图确定MFS1基因的精确位置以及15号染色体上10个DNA标记的顺序。五个实验室对22个家庭中的225名患者和248名正常人进行了总共2111次基因分型。每个标记平均有98次减数分裂提供信息。D15S48和D15S1被确定为最紧密连锁的标记，其99%的置信区间上限分别为12%和13%。我们使用CRI-MAP程序构建了最可能的顺序为：D15S24-D15S25-D15S1-MFS1-D15S48-D15S49+ ++-(D15S45/S51)-(D15S29/S38)。D15S2相对于-D15S1-D15S48-的位置无法确定。这些标记的遗传图谱在男性中延伸53.6厘摩，在女性中延伸65.0厘摩，平均性别图谱为60.7厘摩。性别差异具有统计学意义（p = 0.005）。记录了22个MFS1家庭之间的连锁异质性（p = 0.009），因此必须将一个家庭排除在分析之外。然而，对其余21个家庭的两点和多点对数优势分数进行比较，没有发现MFS1基因座连锁异质性的证据。
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