de Vries Yne, Lwiwski Nikki, Levitus Marieke, Kuyt Bertus, Israels Sara J, Arwert Fré, Zwaan Michel, Greenberg Cheryl R, Alter Blanche P, Joenje Hans, Meijers-Heijboer Hanne
Department of Clinical Genetics, VU University Medical Center, P.O. Box 7057, 1007 MB Amsterdam, The Netherlands.
Anemia. 2012;2012:865170. doi: 10.1155/2012/865170. Epub 2012 Jun 4.
Fanconi anemia (FA) is a recessive DNA instability disorder associated with developmental abnormalities, bone marrow failure, and a predisposition to cancer. Based on their sensitivity to DNA cross-linking agents, FA cells have been assigned to 15 complementation groups, and the associated genes have been identified. Founder mutations have been found in different FA genes in several populations. The majority of Dutch FA patients belongs to complementation group FA-C. Here, we report 15 patients of Dutch ancestry and a large Canadian Manitoba Mennonite kindred carrying the FANCC c.67delG mutation. Genealogical investigation into the ancestors of the Dutch patients shows that these ancestors lived in four distinct areas in The Netherlands. We also show that the Dutch and Manitoba Mennonite FANCC c.67delG patients share the same haplotype surrounding this mutation, indicating a common founder.
范可尼贫血（FA）是一种隐性DNA不稳定疾病，与发育异常、骨髓衰竭和癌症易感性相关。根据对DNA交联剂的敏感性，FA细胞已被分为15个互补组，并且相关基因已被鉴定。在几个群体的不同FA基因中发现了奠基者突变。大多数荷兰FA患者属于互补组FA - C。在这里，我们报告了15名荷兰血统的患者以及一个携带FANCC基因c.67delG突变的加拿大曼尼托巴门诺派大家族。对荷兰患者祖先的家谱调查表明，这些祖先生活在荷兰的四个不同地区。我们还表明，荷兰和曼尼托巴门诺派携带FANCC基因c.67delG突变的患者在该突变周围共享相同的单倍型，表明有一个共同的奠基者。
