Multiplex analysis of two intragenic microsatellite repeat polymorphisms in the genetic diagnosis of haemophilia A
Multiplex analysis of two intragenic microsatellite repeat polymorphisms in the genetic diagnosis of haemophilia A
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两个基因内微卫星重复多态性的多重分析在血友病A基因诊断中的应用
DOI：
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发表时间：
1994
影响因子：
6.5
通讯作者：
D. Lillicrap
中科院分区：
文献类型：
--
作者：
S. Windsor;S. Taylor;D. Lillicrap
总结。如果使用先前报道的双等位基因基因内多态性，则分子遗传学研究用于血友病A的携带者检测和产前诊断将在大约75%的有疾病史的亲属中提供信息。在这项研究中，我们报告了在该疾病的基因检测中使用因子VIII基因内的两个多等位基因，微卫星重复多态性。这两个二核苷酸重复多态性已经使用多重聚合酶链反应（PCR）协议进行了分析，并且可以在收到样品的3天内获得结果。在13号内含子多态性位点，我们证实了最初观察到的8个等位基因，而在22号内含子多态性位点，与初步报告的多态性相反，我们看到了5个等位基因。我们用这两个微卫星重复标记分析了32个家族（174名受试者），发现仅使用这两个多态性，81%的家族可用于连锁分析。内含子13重复序列在22/31个家族（71%）中具有信息性，内含子22多态性在12/17个家族（71%）中具有信息性。我们还发现，在所测试的11/32个家族中（34%），微卫星重复序列是唯一有用的基因内标记。鉴于这些观察结果，我们认为启动血友病A基因检测的最有效策略是将内含子13和22二核苷酸重复序列的多重PCR分析与内含子18 BclI标记的PCR分析结合起来。在我们的人群中，该方案在大约88%的家庭中提供了信息丰富的结果，并且可以在收到用于检测的样品的3天内获得结果。
Summary. Use of molecular genetic studies for carrier detection and prenatal diagnosis of haemophilia A will be informative in approximately 75% of kindreds with a prior history of the disorder if previously reported bi‐allelic intragenic polymorphisms are used. In this study we report the use of two multi‐allelic, microsatellite repeat polymorphisms within the factor VIII gene in genetic testing for this disease. These two, dinucleotide repeat, polymorphisms have been analysed using a multiplex polymerase chain reaction (PCR) protocol, and results can be available within 3 d of receipt of samples. At the intron 13 polymorphic locus we have confirmed the original observation of eight alleles, whilst at the intron 22 locus, in contrast to a preliminary report of this polymorphism, we have seen five alleles. We have analysed 32 families (174 subjects) with the two microsatellite repeat markers and have found that using these two polymorphisms alone, 81% of families are informative for linkage analysis. The intron 13 repeat was informative in 22/31 families tested (71%) and the intron 22 polymorphism was informative in 12/17 families (71%). We have also found that in 11/32 families tested (34%) the microsatellite repeats were the only informative intragenic markers. In view of these observations, we believe that the most effective strategy for initiating haemophilia A genetic testing is to combine the multiplex PCR analysis of the intron 13 and 22 dinucleotide repeats with the PCR analysis of the intron 18 BclI marker. In our population this protocol provided informative results in approximately 88% of families and results can be available within 3 d of receiving the samples for testing.
使用变性梯度凝胶电泳检测因子 VIII 基因中的点突变。
影响因子：
4.4
作者：
Traystman,MD;Higuchi,M;Kasper,CK;Antonarakis,SE;KazazianJr,HH
通讯作者：
KazazianJr,HH
使用基因内因子 VIII:C DNA 多态性检测 A 型血友病携带者。
影响因子：
20.3
作者：
Janco,RL;Phillips3rd,JA;Orlando,PJ;Woodard,MJ;Wion,KL;Lawn,RM
通讯作者：
Lawn,RM
DOI：
10.1073/pnas.88.16.7405
发表时间：
1991-08-01
影响因子：
11.1
作者：
HIGUCHI, M;KAZAZIAN, HH;ANTONARAKIS, SE
通讯作者：
ANTONARAKIS, SE