1型戈谢病家族和患者的分子特征：临床水平上的家族内异质性
Molecular characterisation of type 1 Gaucher disease families and patients: intrafamilial heterogeneity at the clinical level.
作者信息
Amaral O, Fortuna A M, Lacerda L, Pinto R, Sa Miranda M C
机构信息
Unidade de Enzimologia, Instituto de Genetica Medica Jacinto de Magalhaes, Porto, Portugal.
出版信息
J Med Genet. 1994 May;31(5):401-4. doi: 10.1136/jmg.31.5.401.
Type 1 Gaucher disease families were studied in an attempt to establish a phenotype/genotype correlation in affected persons and also to identify carriers accurately. In the Portuguese type 1 Gaucher patients, screening for mutations N370S, L444P, R463C, and 1066 + 1 G-->A allowed the identification of 85% of the alleles among unrelated patients. A subclinical case with genotype N370S/1066 + 1 G-->A was identified in one family in which there were three other symptomatic sibs. To our knowledge this is the first subclinical case with a genotype other than N370S/N370S. No genotype-phenotype correlation could be established and considerable clinical heterogeneity was found even among sibs with the same genotype. The data collected on the origins of the Gaucher families indicated two areas in northern Portugal where a higher frequency of the disease may be expected to exist.
对1型戈谢病家族进行了研究，旨在确定患者的表型/基因型相关性，并准确识别携带者。在葡萄牙的1型戈谢病患者中，对N370S、L444P、R463C和1066 + 1 G→A突变进行筛查，在无关患者中识别出了85%的等位基因。在一个家庭中发现了一例基因型为N370S/1066 + 1 G→A的亚临床病例，该家庭还有其他三名有症状的同胞。据我们所知，这是首例基因型不是N370S/N370S的亚临床病例。无法建立基因型与表型的相关性，甚至在基因型相同的同胞中也发现了相当大的临床异质性。收集到的关于戈谢病家族起源的数据表明，在葡萄牙北部的两个地区，预计该病的发病率会更高。
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