Mitchell C, Mitchell C L, Krause A
Division of Human Genetics, School of Pathology, the National Health Laboratory Service, Cnr. of DeKorte and Hospital Street, Braamfontein, Johannesburg 2000, South Africa.
Haemophilia. 2007 Sep;13(5):642-4. doi: 10.1111/j.1365-2516.2007.01486.x.
Three markers, one restriction length polymorphism (RFLP) (MseI) and two microsatellite markers (Intron 1 and 3'UTR), linked to the FACTOR IX gene, were assessed for the purpose of genetic testing for Haemophilia B families in South Africa. This was carried out using seven Haemophilia B families and fifty random control samples. We observed five new alleles for the Intron 1 marker within the black control and patient sample groups, and informativity in 89% (8/9) of all carrier females for at least one of the three markers observed. These markers are useful for carrier detection and prenatal diagnosis of Haemophilia B in the great majority of South African black and white families.
为对南非的B型血友病家族进行基因检测，对与凝血因子IX基因相关的三个标记物进行了评估，其中一个是限制性片段长度多态性（RFLP）（MseI），另外两个是微卫星标记物（内含子1和3'非翻译区）。这项工作使用了7个B型血友病家族和50个随机对照样本。我们在黑人对照和患者样本组中观察到内含子1标记物的5个新等位基因，并且在所有携带者女性中，89%（8/9）的人至少对观察到的三个标记物中的一个具有信息性。这些标记物对于南非绝大多数黑人和白人家庭中B型血友病的携带者检测和产前诊断很有用。
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