Sample Details for Hap5005665

ID

Hg ID: Hap5005665, GenBank ID: DQ341087.1

Haplogroup

Phylotree BLD 16: J1d2, Phylotree BLD 17: , YFull: J1d2b

Publication

Published in: Carelli et al., 2006 | Carelli, Valerio; Achilli, Alessandro; Valentino, Maria L.; Rengo, Chiara; Semino, Ornella; Pala, Maria; Olivieri, Anna; Mattiazzi, Marina; Pallotti, Francesco; Carrara, Franco; Zeviani, Massimo; Leuzzi, Vincenzo; Carducci, Carla; Valle, Giorgio; Simionat (2006). Haplogroup Effects and Recombination of Mitochondrial DNA: Novel Clues from the Analysis of Leber Hereditary Optic Neuropathy Pedigrees. American journal of human genetics, 78(4), 564-574.

The mitochondrial DNA (mtDNA) of 87 index cases with Leber hereditary optic neuropathy (LHON) sequentially diagnosed in Italy, including an extremely large Brazilian family of Italian maternal ancestry, was evaluated in detail. Only seven pairs and three triplets of identical haplotypes were observed, attesting that the large majority of the LHON mutations were due to independent mutational events

Sample source link: http://www.ncbi.nlm.nih.gov/nuccore/DQ341087.1

Origin: Brazil

Publication Notes: BSL07_J1d=Tor163

Results Profile

RSRS Haplotype:

146, 195, 247, 295, 315.1C, 462, 489, 689, 769, 825T, 1018, 2758, 2885, 3010, 3594, 4104, 4216, 4312, 7146, 7256, 7521, 7789, 7963, 8468, 8655, 8701, 9123, 9540, 10166, 10664, 10688, 10810, 10873, 10915, 11251, 11778, 11914, 12612, 12705, 13105, 13276, 13506, 13650, 13708, 14040, 14280, 15452A, 16069, 16092Y, 16126, 16129R, 16186, 16187, 16189, 16193, 16223, 16230, 16278, 16362

rCRS Haplotype:

Coming soon…

FASTA Profile:


Phylotree Build 17 Analysis

Missing Variants: J1d2:16311

Additional Variants: J1d2:315.1C, 689, 9123, 11778, 14040, 14280, 16092Y, 16129R, 16362


Last Updated: 2016/06/29 10:51:00 PM

you're currently offline