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“Hereditary Haemochromatosis”, Victor McKusick, Mendelian Inheritance in Man, 1966. (HH) 遺傳性血色素。icd10=E83.110

 


Here I present: Hereditary Haemochromatosis”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (HH遺傳性血色素。icd10=E83.110

INTRODUCTION.

Hereditary haemochromatosis   (HH) is a genetic disorder characterized by excessive intestinal absorption of dietary iron resulting in a pathological increase in total body iron stores. Humans have no mechanism to regulate excess iron, simply losing a limited amount through various means like sweating or menstruating.

There is evidence hereditary hemochromatosis type-1 (HFE1) is caused by homozygous or compound heterozygous mutation in the homeostatic iron regulator (HFE) gene on cytogenetic location  6p22.2 and genomic coordinates 6:26,087,429-26,098,343 . The screenshot of the HFE gene 10,915 bp (base pairs) of DNA sequence length is shown BELOW.  Nine (9) other genes besides HFE in the 6p22.2 cytogenetic location are listed BENEATH.

 

 



 

Coordinate  Symbol  Genomic Name
6:26,033,092  H2AC4 H2A clustered histone 4
6:26,043,227  H2BC3 H2B clustered histone 3
6:26,045,384  H3C3 H3 clustered histone 3
6:26,055,740  H1-2 H1.2 linker histone, cluster member
6:26,087,429 ­ HFE Homeostatic iron regulator
6:26,103,933  H4C3 H4 clustered histone 3
6:26,107,412  H1-6 H1.6 linker histone, cluster member
6:26,113,170  H2BC4 H2B clustered histone 4
6:26,124,172  H2AC6 H2A clustered histone 6
6:26,156,329  H1-4 H1.4 linker histone, cluster member

 

 

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