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At least 865 records · Page 48Linked to original sources
PubMed1994

A new frequent allele is the missing link in the structural polymorphism of the human mannan-binding protein.

Human mannan-binding protein (MBP) is a serum lectin participating in the innate immune defence. Low MBP concentrations are explained by the dominant action of a point mutation at codon 54 of the MBP gene in Eskimos, partially in Caucasians, but not in Africans. A previously described point mutation at codon 57 was very frequent (0.23) in East Africans, low in Caucasians (0.02), and absent in Eskimos. The African population only conformed to Hardy-Weinberg expectation when assuming the existence of an unknown allele, which was subsequently found as a point mutation at codon 52. This allele appeared with a relatively high frequency (0.05) in both Africans and Caucasians, but was absent in Eskimos. Hardy-Weinberg equilibrium is now seen in the investigated ethnic groups. All cases of MBP deficiency may be explained by these three variants.

Alleles↗
PubMed1992

Differences in apolipoprotein (a) polymorphism in west Greenland Eskimos and Caucasian Danes.

Previous studies in Greenland suggest that death rates from ischemic heart disease [IHD] are lower in Eskimos than in Danes and other Caucasian populations. This has been explained by a high intake of n-3 polyunsaturated fatty acids with beneficial effects on blood lipids and hemostasis. In other populations, lipoprotein(a) [Lp(a)] is associated with IHD, plasma concentrations of Lp(a) being genetically determined to a major extent. We have compared Lp(a) concentrations and apo(a) phenotypes in 120 Greenlandic Eskimos with those in 466 Danish men. The median Lp(a) concentration in Eskimos (8.7 mg/dl;[95% CI 6.5-10.7]) was not significantly different from that in Danes (6.3 mg/dl; [95% CI 5.2-7.0]), whereas the 90th percentile was significantly higher among Danes: 46.36 mg/dl; [95% CI 43.0-54.3] vs. 27.6 mg/dl [95% CI 20.7-36.9]. In 20% of the Danes, but in only 8% of the Eskimos (P = 0.009), the concentration of Lp(a) exceeded 30 mg/dl. The difference is probably explained by a low frequency of the low molecular weight apo(a) phenotypes among Eskimos, since the apo(a) isoforms F and B were absent, and the S1 and S2 types were present in only 3.3% of Eskimos. In contrast, these apo(a) isoforms were present in 26.6% of the Danes in either single-band or double-band phenotypes. The pattern of apo(a) polymorphism found in this study could provide part of a genetic explanation for the putative low rates of IHD in Eskimo populations.

Adult↗
PubMed1982

Gm and Km immunoglobulin allotypes in Reindeer Chukchi and Siberian Eskimos.

Blood samples from 403 Reindeer Chukchi of inland Chukotka, and 100 samples from Chaplin Eskimos of the Chukot Peninsula were tested for G 1 m (z,a,x,f), G2m (n), G3m (g,b0,b1,b3,b5,s,t), and Km (1) allotypic determinants. An apparent affinity between the Chukchi and the Eskimos could be inferred from similar frequencies of the two common haplotypes, Gmza;g and Gmza;bst, and from very similar frequencies of the Km1 allele. However, none of the Eskimos had Gmzax;g, though it occurred at a low or moderate frequency in the five Chukchi populations studied. It is assumed that Chukchi can be distinguished from adjoining Eskimos by the same G1m (x) outlier, that has been considered as a taxonomic marker useful in differentiating between Eskimos and American Indians. Comparison of North Asian and North American populations with respect to the array and frequencies of Gm haplotypes and the Km1 allele, supports the hypothesis of a nonrandom distribution of the Gmza;bst and Km1 on both sides of the Bering Strait.

Alleles↗
PubMed1983

Skin cancer in Greenland 1955-1974.

During the period from 1955 to 1974, a total of 23 cases of skin cancer in indigenous Greenlanders was diagnosed, 15 in males and eight in females. There were ten basal cell carcinomas, four squamous-cell carcinomas, five malignant melanomas of the skin, and four sarcomas. Eight of the ten basal cell carcinomas were located on the head, half of these on the eyelids. Three of the four squamous-cell carcinomas were found on the lower lip. The number of malignant melanomas in females and the number of remaining, nonmelanotic skin cancers in both males and females were significantly lower than expected if the incidence in the Greenland population had been the same as in Denmark. Since recent investigations seem to indicate that the annual ultraviolet radiation is of almost the same magnitude as in northwest Europe, the low incidence may be due to less skin exposure and/or ethnic factors such as a higher degree of pigmentation. No accumulation of cases within definite geographical areas was found and no occupational clustering was apparent. As regards both squamous-cell carcinomas and malignant melanomas, the degree of metastases and survival indicated that Greenlandic patients sought medical assistance very late.

Basal Cell Carcinoma↗
PubMed1995

Metachromatic leukodystrophy among southern Alaskan Eskimos: molecular and genetic studies.

Metachromatic leukodystrophy (MLD) is an autosomal recessive disorder resulting from the inability to metabolize sulphatide, an important component of myelin. Although there is significant clinical variability between patients, most have the late-infantile form. It is one of the most common lysosomal disorders involving mental deterioration and is found throughout the world. The great majority of the cases have a deficiency of arylsulphatase A activity. Accurate diagnosis of MLD is complicated by the presence of so-called pseudodeficiency alleles and the need to receive specimens for biochemical testing within 24-48 h of collection. We report the identification of the mutation (a g-to-a transition in the first nucleotide of intron 4) in the arylsulphatase A gene causing late-infantile MLD among the Eskimo population of southern Alaska. As all patients and family members from living and deceased patients had the same mutation, a mutation-based test was developed to identify patients and carriers that can be done on dried blood spots sent via regular mail service. A possible genetic link between this population and the Navajo Indians of the southwestern United States is proposed.

Alaska↗
PubMed1989

Fatal familial cholestatic syndrome in Greenland Eskimo children. A histomorphological analysis of 16 cases.

We report the first detailed study of hepatic morphology in 28 biopsies from 16 Greenland Eskimo children with fatal familial cholestatic syndrome. The changes were categorized as early, intermediate and late. In the early stage, until 5 months of age, changes were restricted to zone 3, consisting of cholestasis and rosette formation without fibrosis. In the intermediate stage, from 5 to 14 months, cholestasis persisted and rosette formation increased, both with further extension into zone 2. Perisinusoidal fibrosis developed, first in zone 3 and later in zone 1. The late stage, from 17 to 60 months, showed a further increase in cholestasis and rosette formation, and fibrosis of zones 3 and 1 in nearly all biopsies. Portal to portal and portal to central fibrosis was evident with resulting cirrhosis in 2 of 7 patients. The morphological features can be summarized as pure cholestasis with prominent rosette formation followed by zone 3 fibrosis, zone 1 fibrosis, and, cirrhosis. Other characteristics are the virtual absence of inflammation and the lack of anatomical abnormalities such as paucity of bile ducts. The changes and their progression resemble those of Byler disease. Clinical and biochemical features are also largely similar, except for the presence of thrombocytosis in many of the Eskimo patients.

Biopsy↗
PubMed1992

Anatomical risk factors in primary angle-closure glaucoma. A ten year follow up survey based on limbal and axial anterior chamber depths in a high risk population.

A population of 539 persons was examined in 1979, using LCD and ACD estimations acc. to van Herick et al. and by Haag Streit pachymetry, respectively. ACD had been measured already in 1969, due to a remarkable occurrence of primary angle-closure glaucoma (PACG) in the survey population of Greenland Eskimos (District of Uummannaq). The present follow up study in 1989 aimed at persons presently above age 40, who had shown either an LCD value graded as 0 (contact) or 1 (< 0.25 of corneal thickness = CT), or a value of 2 (= 0.25 CT) if an ACD value of < = 2.70 mm (CT included) had also been found. PACG patients or suspects known in 1979 already were excluded from the present analyses. A total of 75 persons was now examined. Five had developed acute (n = 2) or intermittent PACG (n = 3) during the ten year period. At the survey 3 intermittent and 4 latent PACG cases were detected, yielding in ten years a PACG prevalence of 12/75 = 16% (sex ratio: M/F = 2/10). One male case of severe secondary (partly inflammatory) ACG was also found. Past and present LCD and ACD values are given as well as gonioscopical status. Creeping, synechial angle-closure was frequent. Among probands who could not be examined, mostly due to death before 1989, 5/54 had developed PACG during the ten year period. Non-probands according to above criteria were mostly not examined. Yet their records were scrutinized for any event suspect of PACG. Thus among 258 persons above age 40 no PACG case was found.(ABSTRACT TRUNCATED AT 250 WORDS)

Acute Disease↗
PubMed1994

DNA polymorphism in Greenland. Allele and profile frequencies in a Greenland population sample using the VNTR probes MS1, MS31, MS43a and YNH24.

Allele frequencies obtained by RFLP (Restriction Fragment Length Polymorphism) analysis using the VNTR (Variable Number Tandem Repeats) single locus probes MS1, MS31, MS43a and YNH24 on HinfI-restricted DNA in a Greenland Eskimo (155 individuals) and a Danish Caucasian (616 individuals) population sample are reported. For MS1 the frequency distributions were almost identical whereas minor but significant differences were seen for the other 3 probes. The distribution of the frequencies of 139 Greenland complete DNA profiles was estimated using the Greenland and the Danish database. The average profile frequencies obtained with the Greenland database were approximately 10 times higher than the estimates obtained with the Danish database.

Alleles↗