de Saint Basile G, Notarangelo L D, Bonaiti-Pellié C, Doussau M, Prolini O, Craig I W, Ugazio A, Griscelli C, Fischer A
INSERM U, 132, Hôpital des Enfants-Malades, Paris, France.
Hum Genet. 1992 May;89(2):223-8. doi: 10.1007/BF00217127.
Whole-blood cells of obligate carriers of the X-linked Wiskott-Aldrich syndrome (WAS) exhibit nonrandom inactivation of the X-chromosomes. However, because of the limited polymorphism of the probes available, the X-methylation pattern can only be determined in a restricted proportion of females. We thus analysed a large set of normal females and members of WAS families, using the recently described marker M27 beta, which detects the hyperpolymorphic locus DXS255. The probe was used to detect differences in methylation between the active and inactive X-chromosome, and the findings were compared with the pattern obtained using the well-documented probes from the 5' end of the PGK and HPRT genes. All the normal females were found to use either X-chromosome randomly, and there was complete correlation between the three probes in the populations studied. Segregation analysis performed with M27 beta and other related markers in the WAS families was fully in accordance with the X-inactivation data. The use of M27 beta, for both X-inactivation and segregation analysis of WAS kindreds, provides a basis for genetic counselling in the majority of families, including those with no surviving males.
X连锁的威斯科特-奥尔德里奇综合征（WAS）的 obligate 携带者的全血细胞表现出X染色体的非随机失活。然而，由于可用探针的多态性有限，X甲基化模式只能在有限比例的女性中确定。因此，我们使用最近描述的标记M27β分析了大量正常女性和WAS家族成员，该标记检测高度多态性位点DXS255。该探针用于检测活性和非活性X染色体之间的甲基化差异，并将结果与使用来自PGK和HPRT基因5'端的充分记录的探针获得的模式进行比较。发现所有正常女性随机使用任何一条X染色体，并且在所研究的人群中三种探针之间存在完全相关性。在WAS家族中使用M27β和其他相关标记进行的分离分析与X失活数据完全一致。使用M27β进行WAS亲属的X失活和分离分析，为大多数家族（包括没有存活男性的家族）的遗传咨询提供了基础。
