Glass I A, Del Mastro R G, Lanyon W G, Raeburn J A, Kilpatrick M W, Webb T P, Connor J M
Dept of Clinical Genetics, University of Birmingham.
Am J Med Genet. 1992 Aug 1;43(6):1050-6. doi: 10.1002/ajmg.1320430632.
Linkage analysis using the polymorphic loci DXS369, DXS296, DXS297 and DXS306 was carried out on a cohort of 17 families segregating for fragile X syndrome. The observed recombination fractions at: DXS369 (Zmax = 3.02; theta = 0.06), DXS297 (Zmax = 2.92; theta = 0.0), DXS296 (Zmax = 3.82; theta = 0.0), DXA306 (Zmax = 4.55; theta = 0.05) confirm that these loci are tightly linked to FRAXA. Our experience in the cytogenetic analysis of 58 at risk pregnancies by chorionic villus or fetal blood sample examination documents a false negative rate in obligate carrier male pregnancies for CVS of 11% and for FBS of 3%.
利用多态性位点DXS369、DXS296、DXS297和DXS306对17个分离脆性X综合征的家系进行了连锁分析。在以下位点观察到的重组率：DXS369（Zmax = 3.02；θ = 0.06）、DXS297（Zmax = 2.92；θ = 0.0）、DXS296（Zmax = 3.82；θ = 0.0）、DXA306（Zmax = 4.55；θ = 0.05），证实这些位点与FRAXA紧密连锁。我们通过绒毛膜绒毛或胎儿血样检查对58例高危妊娠进行细胞遗传学分析的经验表明，对于绒毛取样（CVS），确诊携带者男性妊娠的假阴性率为11%，对于胎儿血样（FBS）为3%。
