Linkage studies do not confirm the cytogenetic location of incontinentia pigmenti on Xp11.
Linkage studies have been performed in 5 incontinentia pigmenti (IP) families totaling 29 potentially informative meioses. Ten probes of the Xp arm were used, six of them were precisely localized on the X chromosome, using hamster X human somatic cell hybrids containing a broken X chromosome derived from an incontinentia pigmenti patient carrying an X;9 translocation [46,XX,t(X;9)(p11.21;q34)]. The following order for probes is proposed: pter - (DXS7, DXS146, DXS255) - IP1 - (DXS14, DXS90) - DXS106 - qter. The negative lod scores obtained exclude the possibility that in the families studied, the gene for IP is located in Xp11 or in the major part of the Xp arm.
Sefiani
A
A
INSERM U.12, Hôpital des Enfants-Malades, Paris, France.
Sinnett
D
D
Abel
L
L
Szpiro-Tapia
S
S
Heuertz
S
S
Craig
I
I
Fraser
N
N
Kruse
T A
TA
Frydman
M
M
Peter
M O
MO
D000818:Animals; D002874:Chromosome Mapping; D006224:Cricetinae; D003412:Cricetulus; D015342:DNA Probes; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D006822:Hybrid Cells; D007184:Incontinentia Pigmenti / Q000235:genetics*; D008297:Male; D009693:Nucleic Acid Hybridization; D010375:Pedigree; D010859:Pigmentation Disorders / Q000235:genetics*; D014960:X Chromosome
D015342:DNA Probes; D005819:Genetic Markers