Towards identification of X-linked mental retardation genes: a proposal.
Identification of X linked mental retardation (XLMR) genes that can only be broadly localised by linkage analysis will ultimately depend on systematic screening of many probands for mutations in many candidate genes. This would be more efficiently performed by analysis of mRNA (or illegitimate transcripts) by reverse transcriptase-polymerase chain reaction (RT-PCR). A scheme is proposed that associates standardized reporting of XLMR families, including small families that would not by themselves yield statistically significant linkage information, and deposit of a lymphoblastoid cell line for one proband of each family to an accessible repository.
Mandel
J L
JL
Laboratoire de Génétique Moléculaire des Eucaryotes du CNRS, Unité 184 de Génétique Moléculaire de l'INSERM, Faculté de Médecine, Strasbourg, France.
D018070:Biological Specimen Banks; D002460:Cell Line; D002874:Chromosome Mapping / Q000379:methods; D018563:Disease Notification; D015723:Gene Library; D008040:Genetic Linkage; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008214:Lymphocytes; D016133:Polymerase Chain Reaction / Q000379:methods; D012194:RNA-Directed DNA Polymerase; D014960:X Chromosome / Q000235:genetics*
D012194:RNA-Directed DNA Polymerase