Læknablaðið - 15.02.1983, Blaðsíða 12

40
LÆK.NABLADIÐ
ritara, vélritun. Að lokum pökkum við Kristínu
Porsteinsdóttur, bókaverði Landspítalans,
hjálp við heimildasöfnun.
SUMMARY
Three members of two families, two sisters and a
brother suffering from osteopetrosis (OP) with
precocious manifestations (autosomal recessive
type), are reported. Genealogic investigation show,
firstly, that the parents in one of the families are
related, secondly, that the two families are related
and thirdly, that the ancestry of the two families
stems from the same neighbourhood, where many
of them have lived for at last three centuries. 15000-
20000 children were born in Iceland during the
years between the birth of the first and the second
affected child. The frequency of the recessive
osteopetrosis gene in Icelanders is unknown. Twen-
ty three family members in four generations were
typed for 21 genetic protein marker systems and the
results suggested no linkage with the OP gene.
These genetic markers were in agreement with
the fatherhood in the two families.
The present knowledge of the autosomal recessi-
ve type of OP is reviewed with reference to recent
reports on successful treatment of OP by bone
marrow transplantation, when HLA identical lst
degree relative is available as donor.
HEIMILDIR
1) Beighton P, Horan F, Hamersma H. A review of
the osteopetrosis. Postgrad Med J 1977; 53;
507-15.
2) Ash P, Loutit JF, Townsend KMS. Osteoclasts
derive from hematopoietic stem cells according
to marker, giant lysosomes of beige mice.
Clinical Orthopaedic and Related Research
1981; 155: 249-58.
3) Walker DG. Osteopetrosis cured by temporary
parabiosis. Science 1973; 180: 875.
4) Walker DG. Bone resorption restored in osteo-
petrotic mice by transplants of normal bone
marrow and spleen. Science 1975; 190: 784.
5) Walker DG. Spleeen cells transmit osteopetro-
sis in mice. Science 1975; 190; 785.
6) Coccia PF, Krivit W, Cervenka J, Clawson C,
Kersey JH, Kim TH, Nesbit ME, Ramsay NK,
Tafla 2. Skýringartafla um erfdakerfi proteina í sermi og raudum frumum, sem rannsökud voru.
Erfðakerfi Tegund Starf Algengar Samsætur, gen. Rafdráttarburðarefni Heimild Nr.
Heiti Skammst.
Properdin B Bf Serum protein 4 Agarose 13, 14
Komplementkerfi S;F;S,;F,
Komplementpáttur c3 Serum protein 3 Agarose 14
Komplementkerfi S; F; Fx
Group specific Gc Serum protein 3 Acrylamid 15
protein D-vítamín flytjandi 1S; 2; 1 F Isoelectr. foc.
Haptoglobin Hp Serum protein 2 Sterkja 16
Hæmoglobin flytjandi 1; 2
Glyoxalase-1 GLO-1 Ensím 2 Agarose 17, 18
2; 1; 3
Rauðra fruma EsD Ensím 2 Agarose 17
Esterase 1, 2
Súr fosfatase AcP, Ensím 3 Sterkja 19
B, A, C
Glutamatepyrovate, GPT Ensím 3 Sterkja 20
transaminase 1; 2; 3
Serum E> Ensím 3 Sterkja 16
Esterase' U, A, S latefni
Serum E2 Ensím 2 Sterkja 21
Esterase2 -5; +5
Transferrin Tf Serum protein 1 Sterkja 22, 14
Járn flytjandi C Agarose