Identification of novel RFLPs in the vicinity of CpG islands in Xq28: Application to the analysis of the pattern of X chromosome inactivation

Journal Article · Wed Jan 01 04:00:00 EST 1992 · American Journal of Human Genetics; (United States)

OSTI ID:5377031

Camerino, G; Santachiara-Benerecetti, S ^[1]; Rocchi, M ^[2]; Parolini, O; Notarangelo, L D ^[3]; Maestrini, E; Rivella, S; Tribioli, C; Toniolo, D

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1. Univ. di Pavia (Italy)
2. Univ. di Bari (Italy)
3. Univ. di Brecscia (Italy)

Probes of CpG islands were cloned from the distal long arm of the human X chromosome; three of them were found to be polymorphic. A HindIII RFLP was identified by the probe 2-25 (DXS606), and it was mapped to the Xq27-Xq28 boundary. Probes 2-19 (DXS605) and 2-55 (DXS707), which identify EcoRI and MspI polymorphisms, respectively, have been mapped to the distal part of Xq28, in the G6PD-RCP/GCP gene region. Probe 2-19 has been further localized about 16 kb from the 3{prime} end of the G6PD gene. The new RFLPs may be useful for the precise mapping of the many disease genes localized in this part of the human X chromosome. Using the methylation-sensitive rare-cutter enzyme EagI in conjunction with the polymorphic EcoRI site, the authors were able to demonstrate that the RFLP may be used both to study randomness of X chromosome inactivation and for carrier detection in X-linked syndromes where nonrandom X inactivation occurs. It is conceivable that the combined use of 2-19 and of the probes described so far (pSPT-PGK and M27{beta}) will make analysis of X inactivation feasible in virtually every female.

• OSTI ID: 5377031
• Journal Information: American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 50:1; ISSN AJHGA; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
ANIMALS
CHROMOSOMES
DISEASES
DNA SEQUENCING
ETIOLOGY
FEMALES
GENES
HEREDITARY DISEASES
HETEROCHROMOSOMES
HUMAN CHROMOSOMES
HUMAN X CHROMOSOME
INACTIVATION
MAMMALS
MAN
PRIMATES
RFLPS
STRUCTURAL CHEMICAL ANALYSIS
VERTEBRATES
WOMEN
X CHROMOSOME