First molecular-cytogenetic characterization of Fanconi anemia fragile sites in primary lymphocytes of FA-D2 patients in different stages of the disease

Table 1 BAC-probes used for fluorescence in situ hybridization for the most breakpoint-affected chromosomal regions

Chromosomal region	Fragile site (FS)	FS type^a	BAC-probe	Co-localization of FA breakpoints and FS
1p13.3	FRA1N	Aphidicolin^b	RP11-242D10	+
1q21.2	FRA1F	Aphidicolin	RP11-301 M17	+
1q42.2	Near FRA1H	Azacytidin	RP11-109G24	−
2q35	FRA2U	Aphidicolin	RP11-316O14	+
3p14.2	FRA3B	Aphidicolin	RP11-129 K20	+
3p21.31	FRA3H	New nomenclature^c	RP11-787O14 RP11-159A17	+
3q27.1	FRA3C	Aphidicolin	RP11-110C15	+
5q13.2	FRA5K	New nomenclature^d	RP11-497H16	+
5q33.2	FRA5O	New nomenclature^d	RP11-265I24 RP11-494C5	+
7q22.3	FRA7F	Aphidicolin	CTB-20D2	+
7q32.3	FRA7H	Aphidicolin	RP11-138A9 RP11-36B6	+
11q13	FRA11H	Aphidicolin	RP11-449G14	+
14q24.3	FRA14G	Aphidicolin^b	RP3-414A15	+
16q22.1	FRA16C, FRA16B	Aphidicolin	RP11-106 J23	+
16q23	FRA16D	Aphidicolin	RP11-358 L22	+
18q21.3	FRA18B	Aphidicolin	RP11-15C15	+

BAC-probes for the appropriate FSs were selected according to the literature data:
^aNomenclature according to Lukusa et al. [33]
^bNew extended nomenclature according to Mrasek et al. [34]
^cCommon according to the nomenclature by Borgaonkar [35]
^dCommon according to the nomenclature by Simonic and Gericke [36]

ISSN: 1755-8166