磷酸甘油酸激酶1（PGK1）与X连锁严重联合免疫缺陷（IMD4）的连锁关系使得在没有存活男性的家庭中进行预测性检测成为可能。
Linkage of PGK1 to X-linked severe combined immunodeficiency (IMD4) allows predictive testing in families with no surviving male.
作者信息
Goodship J, Levinsky R, Malcolm S
机构信息
Department of Paediatric Genetics, Institute of Child Health, London, UK.
出版信息
Hum Genet. 1989 Dec;84(1):11-4. doi: 10.1007/BF00210662.
We present a linkage map of DNA probes around the X-linked severe combined immunodeficiency (IMD4) locus at Xq11-13. DXS159 and PGK1 show no cross-overs with the disease locus (Lod 3.01 at theta = 0.00). The order of loci is DXS1-DXS106-(DXS159-PGK1-IMD4)-DXS72 -DXYS1. Members of families whose carrier status has been established by X-inactivation patterns were included in the analysis. As the probe (pSPT/PGK), which is used for investigation of X-inactivation patterns, has been shown to be linked to the disease itself, it is possible to assign phase in mothers of sporadic cases who have been shown to be carriers, even when they have no surviving male offspring.
我们展示了位于Xq11 - 13的X连锁严重联合免疫缺陷（IMD4）基因座周围DNA探针的连锁图谱。DXS159和PGK1与疾病基因座无交叉（在θ = 0.00时Lod值为3.01）。基因座顺序为DXS1 - DXS106 -（DXS159 - PGK1 - IMD4）- DXS72 - DXYS1。分析中纳入了通过X染色体失活模式确定携带者状态的家族成员。由于用于研究X染色体失活模式的探针（pSPT/PGK）已被证明与疾病本身连锁，所以即使散发病例的母亲没有存活的男性后代，在已证明她们为携带者的情况下，也有可能确定其相位。
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