Martinati L C, Trabetti E, Casartelli A, Boner A L, Pignatti P F
Institute of Biology and Genetics, University of Verona, Italy.
Am J Respir Crit Care Med. 1996 May;153(5):1682-5. doi: 10.1164/ajrccm.153.5.8630620.
Previous studies reported linkage between maternally inherited atopy and the beta subunit of the high affinity IgE receptor (Fc epsilon RI-beta) located on chromosome 11q13. We have investigated 45 Italian families with atopic asthmatic children, for a total of 213 subjects, including 148 patients. Genotyping was carried out with two microsatellite DNA markers: one (Fc epsilon RI-beta CA) located inside the gene, and one (CI11-319 CA) closely linked to it. Affected sib-pair analysis in families with several affected children indicated 128 pairs in which either both markers were informative. An excess of maternal allele sharing was observed, although not significant. The allele-specific DNA amplification test for the FcRI-beta Ile181Leu mutation, described previously in 17% of atopic English families by Shirakawa and coworkers, was negative in all our families, as well as in 42 Italian children with atopic asthma and without family histories of the disease.
先前的研究报道了母系遗传的特应性与位于11q13染色体上的高亲和力IgE受体(FcεRI-β)的β亚基之间的连锁关系。我们调查了45个患有特应性哮喘儿童的意大利家庭,共计213名受试者,其中包括148名患者。使用两个微卫星DNA标记进行基因分型:一个(FcεRI-β CA)位于基因内部,另一个(CI11-319 CA)与之紧密连锁。对有多个患病儿童的家庭进行受累同胞对分析,结果显示有128对中两个标记均具有信息性。观察到母系等位基因共享过量,尽管不显著。先前Shirakawa及其同事在17%的特应性英国家庭中描述的FcRI-β Ile181Leu突变的等位基因特异性DNA扩增试验,在我们所有家庭以及42名患有特应性哮喘且无家族病史的意大利儿童中均为阴性。