背景:大约1000人中有一个人是罗伯逊易位携带者。卵形成错误(或精子很少)可能是罗伯逊易位的原因。大多数罗伯逊易位携带者健康,寿命正常,但确实会增加后代三体和妊娠损失的风险。罗伯逊易位携带者的适应度降低,但可以为进化提供材料。
方法:我们对该纯合Robertson易位家族进行了产前诊断和分子细胞遗传学分析。我们报告了一个纯合的罗伯逊易位家族,具有先前未描述的马赛克罗伯逊裂变核型。
结果:我们确定了该家族中的六个罗伯逊易位携带者。四个是45,XX或XY的杂合易位携带者,der(14;15)(q10;q10),一个是44,XY的纯合易位载体,der(14;15)(q10;q10),der(14;15)(q10;q10),一个是以前没有描述的45,XN的罗伯逊裂变载体,der(14;15)(q10;q10)[42]/46,XN[58],表型正常。
结论:我们报道了一个以前未描述的镶嵌型罗伯逊裂变核型。用于物种形成的罗伯逊易位纯合性可能是人类物种形成的潜在机制。理论上,同源罗伯逊易位的携带者不能产生正常配子,但罗伯逊裂变使它们有可能产生正常的配子.
BACKGROUND: Approximately one person in 1000 is a Robertsonian translocation carrier. Errors in the formation of eggs (or more rarely of sperms) may be the cause of Robertsonian translocation. Most Robertsonian translocation carriers are healthy and have a normal lifespan, but do have an increased risk of offsprings with trisomies and pregnancy loss. The fitness of Robertsonian translocation carriers is reduced, but can provide material for evolution.
METHODS: We have done prenatal diagnosis and molecular cytogenetic analyses on this homozygous Robertson translocation family. We report a homozygous Robertson translocation family with previously undescribed mosaic Robertsonian fission karyotype.
RESULTS: We identified six Robertsonian translocation carriers in this family. Four were heterozygous translocation carriers of 45,XX or XY,der(14;15)(q10;q10), one was a homozygous translocation carrier of a 44,XY,der(14;15)(q10;q10),der(14;15)(q10;q10), and one was a previously undescribed Robertsonian fission carrier of 45,XN,der(14;15)(q10;q10)[42]/46,XN[58] with normal phenotype.
CONCLUSIONS: We reported a previously undescribed mosaic Robertsonian fission karyotype. The homozygosity of Robertsonian translocation for speciation may be a potential mechanism of speciation in humans. In theory, the carriers of homologous Robertsonian translocation cannot produce normal gametes, but Robertson fission made it possible for them to produce normal gametes.