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Sample-size considerations and strategies for linkage analysis in autosomal recessive disorders.

Abstract：

:The opportunity raised by recombinant DNA technology to develop a linkage marker panel that spans the human genome requires cost-efficient strategies for its optimal utilization. Questions arise as to whether it is more cost-effective to convert a dimorphic restriction enzyme marker system into a highly polymorphic system or, instead, to increase the number of families studied, simply using the available marker alleles. The choice is highly dependent on the population available for study, and, therefore, an examination of the informational content of the various family structures is important to obtain the most informative data. To guide such decisions, we have developed tables of the average sample number of families required to detect linkage for autosomal recessive disorders under single backcross and under "fully informative" matings. The latter cross consists of a marker locus with highly polymorphic codominant alleles such that the parental marker genotypes can be uniquely distinguished. The sampling scheme considers families with unaffected parents of known mating types ascertained via affected offspring, for sibship sizes ranging from two to four and various numbers of affected individuals. The sample-size tables, calculated for various values of the recombination fractions and lod scores, may serve as a guide to a more efficient application of the restriction fragment length polymorphism technology to sequential linkage analysis.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Wong FL,Cantor RM,Rotter JI

subject

Has Abstract

pub_date

1986-07-01 00:00:00

pages

25-37

issue

1

eissn

0002-9297

issn

1537-6605

journal_volume

39

pub_type

杂志文章

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