X连锁无丙种球蛋白血症的基因预测
Genetic prediction in X-linked agammaglobulinaemia.
作者信息
Lau Y L, Levinsky R J, Malcolm S, Goodship J, Winter R, Pembrey M
机构信息
Department of Immunology, Institute of Child Health, London, United Kingdom.
出版信息
Am J Med Genet. 1988 Oct;31(2):437-48. doi: 10.1002/ajmg.1320310224.
S21 (DXS17) and pXG12 (DXS94), two probes linked to the locus of X-linked agammaglobulinaemia (XLA), were used for genetic prediction in 13 such families. A method of allowing for nonallelic genetic heterogeneity was demonstrated in the calculation of the genetic risks, specifying a certain proportion of unlinked families. We further estimated the impact due to the uncertainty of the proportion of unlinked families on the final genetic risks in each family and this can be taken into account during genetic counselling.
与X连锁无丙种球蛋白血症（XLA）基因座相关的两个探针S21（DXS17）和pXG12（DXS94），被用于对13个此类家庭进行遗传预测。在遗传风险计算中展示了一种考虑非等位基因遗传异质性的方法，即指定一定比例的非连锁家庭。我们进一步估计了非连锁家庭比例的不确定性对每个家庭最终遗传风险的影响，并且在遗传咨询过程中可以考虑到这一点。
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