L6 population specific variation

Question 1

how does genetic diversity arise in populations

Answer 1

variants intro by muts

lost by genetic drift

Question 2

what the relationship between diversity and age of population

Answer 2

older pop more genetic diversity

Question 3

whatcan be revealed from the genetic diversity of a population

Answer 3

age
split from ca
slection pressures within the envuroment

Question 4

hwo does geogrpahy link to genetic diversity

Answer 4

diversity varies around globe
some phy barriers explan diversity
norm in same area have same ptype

Question 5

what gene used as a measure of genetic diversity

Answer 5

cd4 - a glyco pr on immune cells
high in afr
low rest of world

Question 6

name some of the large scale sequencing studies

Answer 6

1000 genomes project

UK10k project

Question 7

what the findings of the 1000 genomes project

Answer 7

looked at genomes from 26 pops 
found 88 mil variants
afr had most variants show older pops
when look at variants that are common in pops but rare globally most div in afr and some peruvian tribees 
finaland also higher div than rest eu

Question 8

what are the gentic impacts of colonisation and migration

Answer 8

founder effect

gene flow

Question 9

what is admixture

Answer 9

the creation of hybrid pop from two ancestral pop

Question 10

what the general genetic consequence of admixture

Answer 10

introduce new variants
results in incr variation in qtl traits
diff rec alleles decr disease

Question 11

what other consequence of admixture

Answer 11

new pathogen exposure incr disease

Question 12

what did genetic studies show about disease outbreaks in mexico in 16th C

Answer 12

salmonella outbreak
strain had been in eu 300 yrs before
spanish conquest - poor sanitary conditions

Question 13

when did the movement into the american occur

Answer 13

15000ya

Question 14

what have studies found for genetic evidence of the migration into n.am

Answer 14

studied ams. siberians no eu admix
n.am stem from one group split with asians 23,000
spent 8000 bering strat
entered n.am in a single waave

Question 15

whta have studies shown about the n.am and s.am split

Answer 15

13,000ya

found ev of aus melanesia in dna of s.am (Raghavan et al., 2015)

Question 16

what have gentic studies shown about n.am and inuit population

Answer 16

seperate clade whihc are closer to indigenous siberians

Question 17

what have genetic studies shown about the oceana and s.am populations

Answer 17

found amazonians share more sim with present day aus melanesians (1-2% ancestry)

Question 18

what is population y

Answer 18

an ancestral population beleived to have contributed to both s.am and oceana

Question 19

who is pop y thought to be most related to in present day pop and what this evidenve of

Answer 19

aus
than e. asain/siberian
no admixture in bering strait

Question 20

what problem with conclusions from pop y at the moment

Answer 20

no ancient dna prove

although craniomorphological features of ancestral fossils support

Question 21

when and where fossil usr1 from

Answer 21

beringia alaska

dated 11.5kya

Question 22

what has fossil usr1 revelaled/suggested

Answer 22

genome seq shown more related to n.am than any other modern pop
is equal rel to all n n.am and s n.am = usr1split with ancestor of them 20-9kya
(nnam and snam then split at 15kya)
has no pop y ancestry
usr1 decendents in beringia until 11.5
usr1 ancestor split with e.asians 36kya but genome persit until 26kya
also show that after 11.5kya some nna have gene flow from siberian pop

Question 23

what have studies of south american population revealed about migrations into the countries

Answer 23

varied by countries

Question 24

what country has the highest n.am genetic sim

Answer 24

n. am

Question 25

what country has the smallest afr contribution

Answer 25

peru/chile/argentine

Question 26

where has most the admix in the s.am pops come fromq

Answer 26

eu -iberia = spain

Question 27

what findings for argentina migration / genetic input

Answer 27

highest number of cluster from italy, models show the migr between 3-9 gen ago. fits wiht the migr that occured in the 19thC-20th C equal contribution from clusters eu/afr and native american

Question 28

what findings for ecuador migration / genetic input

Answer 28

the least eu/afr input

Question 29

what have studies in south american native american shown

Answer 29

``` no evidence of northern native american in latin derived s.am there are two clusters -central andean -other souther native american = andes geog barrier ```

Question 30

what have genetic studies looking at sex xhr in south america shown

Answer 30

gender disparity more x linked native american allele compared to autosomes reflects that mainly eu men came over in migr

Question 31

what is the finnish disease spectrum

Answer 31

different profile of recessive inherited diseases that the finnish pop have compared to surrounding pops 40 rare disease 20% carriers 1:1500 affected

Question 32

what cause the finnish disease spectrum

Answer 32

geog and language barrier

Question 33

what different about y chr in finnish pop

Answer 33

diversity lower than other eu pops

Question 34

give an example of a disease of the finnish disease spectrum

Answer 34

``` ,eckel syndrom auto rec cyctic kidney polydactyl worlwide incidence 0.2 per 1000 finalnd 1.1 per 1000 ```

Question 35

what examples of environmental adpatation in gentic diversity

Answer 35

inuit and diet (FADS1-3) lactose tolerence eu and e.afr (MCM6) light skin eu (MATP/TYR) altitude andes and himalayans (EGLN1)

Question 36

describe the fidings of enviromental adaptation in inuit pop

Answer 36

evidene for positive sel in 5 genes inc FAD1-3 FADS1 and " encode enzymem that convert PUFA into biol active forms also strong adpatation signatiures for height and weight suggest adaptation to survive on diet with no neg impact onw weight

Question 37

what is the uk10k project

Answer 37

genomic studyin uk 3700 ind eu ancestory detect rare and low freq variation in uk pop that are in ind with disease/obestiy etc

Question 38

what has the uk10k project found

Answer 38

576 genes with hom or hetero compound variant predicted to result in loss of pr function one which osteoporosis variant

Question 39

what has study in uk10k revealed about osteoporosis variant

Answer 39

id a variant also in icelandic pop uk110k foudn 3 snps near en1 gene show high assoc with lunbar coe defect mouse with the variant lower bone mineral density