Table 1. Mutational and haplotype... | American Society of Hematology

Table 1.

Mutational and haplotype analysis of Gypsy patients with Fanconi anemia

Patient	Residence	Origin	Tribal group^*	Mutational analysis	Haplotype†
FA55	Spain	Spain	Cales	Homozygote 295C > T	1/1
FA87	Spain	Spain	Cales	Homozygote 295C > T	1/1
FA103	Spain	Spain	Cales	Homozygote 295C > T	1/1
FA108	Spain	Spain	Cales	Homozygote 295C > T	1/1
FA109	Spain	Spain	Cales	Homozygote 295C > T	1/1
FA113	Spain	Spain	Cales	Homozygote 295C > T	1/1
FA122	Spain	Spain	Cales	Homozygote 295C > T	1/1
FA123	Spain	Portugal	Cales	Homozygote 295C > T	1/1
FA163	Spain	Romania	Roma	ND/ND‡	2/2
VU483	Holland	Hungary	Roma	1263delF/ND	2/3
VANA	Slovakia	Romania	Roma	Homozygote IVS11 + 2 del TAGG	4/4
KZFE	Germany	Germany	Sinti	Homozygote 1267C > T	5/5
EJM-737	Ireland	Ireland	Irish Travellers	Homozygote ex11-14 deletion	6/6
JM-512	Ireland	Ireland	Irish Travellers	Homozygote ex11-14 deletion	6/6
KMM-336§	Ireland	Ireland	Irish Travellers	Homozygote ex11-14 deletion	6/6

Patient	Residence	Origin	Tribal group^*	Mutational analysis	Haplotype†
FA55	Spain	Spain	Cales	Homozygote 295C > T	1/1
FA87	Spain	Spain	Cales	Homozygote 295C > T	1/1
FA103	Spain	Spain	Cales	Homozygote 295C > T	1/1
FA108	Spain	Spain	Cales	Homozygote 295C > T	1/1
FA109	Spain	Spain	Cales	Homozygote 295C > T	1/1
FA113	Spain	Spain	Cales	Homozygote 295C > T	1/1
FA122	Spain	Spain	Cales	Homozygote 295C > T	1/1
FA123	Spain	Portugal	Cales	Homozygote 295C > T	1/1
FA163	Spain	Romania	Roma	ND/ND‡	2/2
VU483	Holland	Hungary	Roma	1263delF/ND	2/3
VANA	Slovakia	Romania	Roma	Homozygote IVS11 + 2 del TAGG	4/4
KZFE	Germany	Germany	Sinti	Homozygote 1267C > T	5/5
EJM-737	Ireland	Ireland	Irish Travellers	Homozygote ex11-14 deletion	6/6
JM-512	Ireland	Ireland	Irish Travellers	Homozygote ex11-14 deletion	6/6
KMM-336§	Ireland	Ireland	Irish Travellers	Homozygote ex11-14 deletion	6/6

The genealogy of Gypsies is complex, but they are divided into 3 principal tribal groups, the Roma, the Cales (or Gitanos), and the Munush (or Sinti). Irish Travellers are often confused with Roma Gypsies but they remain a separate ethnic group (see “Results and discussion”).

†

Arbitrary numbers based on the analysis of 4 highly polymorphic microsatellite markers flanking FANCA. Each chromosome/allele is defined by a haplotype block including the 4 markers. All Spanish patients except the one of Romanian origin were homozygous for a given haplotype block (1) and all the other patients but VU483 were homozygous for a specific but different haplotype block (2, 4, etc..).

‡

ND indicates mutation not detected; the 295C > T mutation was disregarded in the last 7 patients shown in the table.

This patient corresponds to cell line EUFA/VU544.

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