Xq21.3 - 22区域的随机DNA片段与X连锁无丙种球蛋白血症（XLA）紧密连锁。
Close linkage of random DNA fragments from Xq 21.3-22 to X-linked agammaglobulinaemia (XLA).
作者信息
Malcolm S, de Saint Basile G, Arveiler B, Lau Y L, Szabo P, Fischer A, Griscelli C, Debre M, Mandel J L, Callard R E
机构信息
Department of Genetics, Institute of Child Health, London, UK.
出版信息
Hum Genet. 1987 Oct;77(2):172-4. doi: 10.1007/BF00272387.
Linkage analysis of 15 families affected by X-linked agammaglobulinaemia (XLA) showed close linkage with three probes located towards the centre of the long arm of the X chromosome. No cross-overs were found using pXG12 (DXS94) lod 6.6 or S21 (DXS17) lod 4.4. One cross-over was found with 19.2 (DXS3). This confirms and extends a previous linkage study (Kwan et al. 1986) which demonstrated linkage with S21 and 19.2. Of the families 14 were informative for either pXG12 or S21 and these probes should thus be of great diagnostic value. No evidence of heterogeneity was found in the XLA families but several cross-overs within this region were detected in a family with the X-linked hyper-IgM syndrome confirming this disease as a separate clinical entity.
对15个患有X连锁无丙种球蛋白血症（XLA）的家族进行连锁分析，结果显示与位于X染色体长臂中部的三个探针紧密连锁。使用pXG12（DXS94），连锁值为6.6；使用S21（DXS17），连锁值为4.4，均未发现重组。使用19.2（DXS3）时发现了一次重组。这证实并扩展了先前的一项连锁研究（关等人，1986年），该研究表明与S21和19.2存在连锁关系。在这些家族中，有14个家族对pXG12或S21具有信息性，因此这些探针应具有很大的诊断价值。在XLA家族中未发现异质性证据，但在一个患有X连锁高IgM综合征的家族中，在该区域内检测到了几次重组，证实该疾病是一个独立的临床实体。
Zotero 插件