检测常染色体三体不分离起源的概率。
The probability of detecting the origin of nondisjunction of autosomal trisomies.
作者信息
Chakravarti A
机构信息
Human Genetics Program, University of Pittsburgh, PA 15261.
出版信息
Am J Hum Genet. 1989 May;44(5):639-45.
For studying the biology of autosomal trisomies it is necessary to establish the parental origin and meiotic stage of nondisjunction by using genetic markers. Theoretical formulas are obtained for calculating the probability of establishing (1) parental origin and meiotic stage of nondisjunction by using a centromeric marker, (2) parental origin of nondisjunction by using a noncentromeric marker, and (3) meiotic stage, given parental origin of nondisjunction. These theoretical calculations demonstrate that parental origin of nondisjunction can be identified with virtual certainty by utilizing multiple genetic markers along a chromosome arm. Centromeric markers are by themselves inefficient for determining meiotic stage of the error, but the efficiency can be considerably increased if parental origin is known with certainty. Even then, multiple centromeric markers may be necessary.
为了研究常染色体三体的生物学特性，有必要通过使用遗传标记来确定不分离的亲本来源和减数分裂阶段。得出了用于计算以下概率的理论公式：（1）通过使用着丝粒标记确定不分离的亲本来源和减数分裂阶段；（2）通过使用非着丝粒标记确定不分离的亲本来源；（3）在已知不分离的亲本来源的情况下确定减数分裂阶段。这些理论计算表明，通过沿着染色体臂使用多个遗传标记，几乎可以确定不分离的亲本来源。着丝粒标记本身在确定错误的减数分裂阶段方面效率不高，但如果能确定亲本来源，则效率可以大大提高。即便如此，可能仍需要多个着丝粒标记。
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