Your Genetic Inherited Conditions - discuss results from yourDNAportal

[Moderator]

yourDNAportal link: https://yourdnaportal.com/yourinheritedconditions

Buerger Disease
Hemochromatosis
Sickle Cell Anemia
Sjögren-Larsson Syndrome
Glycogen Storage Disease Type 1a
Gracile Syndrome

UNADJUSTEDNONRAW_mini_490f.jpg (18.84 KiB) Viewed 2368 times

[Sulis]

Was the C282Y mutation an Irish Gaelic mutation that the Vikings help disseminate?


The C282Y mutation is held to have arisen in either a Celtic or a Viking ancestor some 60 generations ago. While the Scandinavians have a high frequency of C282Y, the Irish have the highest frequency of the C282Y mutation in the world. However testing of the Irish people for C282Y has been patchy. The true frequency of the C282Y mutation in Ireland and specifically in the relatively isolated western province of Connaught is unknown. Establishment of the C282Y frequency in the Irish male population of Connaught with traditional Irish surnames, a group which has a virtual fixation for Y chromosome R1b3, could help establish C282Y as an Irish mutation. Elucidation of greater C282Y haplotype diversity for the Irish as opposed to the Scandinavians would indicate the Irish as the likely source population for C282Y. Taken together, linking of C282Y to the Irish Gaelic male population of Connaught and establishment of an Irish origin of the C282Y mutation would point to dissemination of the C282Y mutation by Viking raiders and colonizers.

PMID 16920278 [Indexed for MEDLINE]
Full text
Full text at journal site

https://www.ncbi.nlm.nih.gov/m/pubmed/1 ... 85/related

[Sulis]

Heterozygosity for the C282Y mutation in the hemochromatosis gene is associated with increased serum iron, transferrin saturation, and hemoglobin in young women: a protective role against iron deficiency?

Genetic hemochromatosis (GH) is the most common autosomal-recessive disorder (1 in 300 in populations of Celtic origin). Homozygosity for a C282Y mutation in the hemochromatosis (HFE) gene is the underlying defect in approximately 80% of patients with GH, and 3. 2-13% of Caucasians are heterozygous for this gene alteration. Because the high frequency of this mutation may result from a selection advantage, the hypothesis was tested that the C282Y mutation confers protection against iron deficiency in young women. To address this question the genotype of codon 282 was determined in a cohort of 468 unrelated female healthcare workers, ages 18-40 years. In all study participants, a complete blood count was obtained, and erythrocyte distribution width, serum iron, transferrin, transferrin saturation, and ferritin were measured. Two individuals were homozygous for the C282Y mutation, 44 were heterozygous, and 416 were homozygous for the wild-type allele. Heterozygous women had significantly higher values for hemoglobin (P = 0.006), serum iron (P = 0.013), and transferrin saturation (P = 0. 006) than women homozygous for the wild-type allele. Our data provide evidence for a protective role of the C282Y mutation in the HFE gene against iron deficiency in young women and suggest that a more efficient utilization of nutritional iron may have contributed to the high prevalence of the mutation in Caucasian populations.

PMID 9836708 [Indexed for MEDLINE]
Full text
Full text at journal site

https://www.ncbi.nlm.nih.gov/m/pubmed/9836708/

[Sulevia]

Image 09-01-2019 at 12.26.jpg (130.99 KiB) Viewed 2365 times

Image 09-01-2019 at 12.26.jpg (42.11 KiB) Viewed 2365 times

[lg16]

FTDNA Data
Sorry, Lot of no calls.


Buerger Disease
People with your genotype do not have Buerger Disease
AA, not a carrier of the mutation associated with Buerger Disease.
rs7744AA
Hemochromatosis
no call
rs1800562 : Your genome file does not contain the SNP for this marker so your result is a no call.
Sickle Cell Anemia
no call
rs334 : Your genome file does not contain the SNP for this marker so your result is a no call.
Sjögren-Larsson Syndrome
no call
rs72547571 : Your genome file does not contain the SNP for this marker so your result is a no call.
Glycogen Storage Disease Type 1a
no call
rs1801175 : Your genome file does not contain the SNP for this marker so your result is a no call.
Gracile Syndrome
no call
rs28937590 : Your genome file does not contain the SNP for this marker so your result is a no call.

[calpal]

rs1800562GG
Gene: HFE
People with your genotype do not have Hemochromatosis

Good. Not affected - not applicable. (GG) Not a C282Y Hemochromatosis carrier.

Sjögren-Larsson Syndrome
rs72547571CC
Gene: ALDH3A2
People with your genotype do not have Sjögren-Larsson Syndrome

Normal - not a carrier of of the mutations associated with Sjögren-Larsson syndrome.

No Calls
Topic
Marker
Glycogen Storage Disease Type 1a
no call
rs1801175: Your genome file does not contain the SNP for this marker so your result is a no call.
Gracile Syndrome
no call
rs28937590: Your genome file does not contain the SNP for this marker so your result is a no call.

[tdd85]

Hemochromatosis
rs1800562GG
Gene: HFE
People with your genotype do not have Hemochromatosis

Good. Not affected - not applicable. (GG) Not a C282Y Hemochromatosis carrier.

Sjögren-Larsson Syndrome
rs72547571CC
Gene: ALDH3A2
People with your genotype do not have Sjögren-Larsson Syndrome

Normal - not a carrier of of the mutations associated with Sjögren-Larsson syndrome.

Glycogen Storage Disease Type 1a
rs1801175CC
Gene: G6PC
People with your genotype do not have Glycogen Storage Disease Type 1a

Normal. Does not have the mutation associated with Glycogen Storage Type 1a disease.

Gracile Syndrome
rs28937590AA
Gene: BCS1L
People with your genotype do not have Gracile Syndrome

Normal, does not have the mutations for Gracile Syndrome.

[warender]

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